Is CEMIP p.Ala295Pro (c.883G>C) pathogenic?

CEMIP p.Ala295Pro (c.883G>C) is classified Uncertain significance in CEMIP (ClinVar, Single submitter, 1 submitter; last evaluated 2023-10-25). AlphaMissense: ambiguous (0.5153); Absent from gnomAD v4.1.

How common is CEMIP p.Ala295Pro (c.883G>C) in the general population?

CEMIP p.Ala295Pro (c.883G>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about CEMIP p.Ala295Pro (c.883G>C)?

AlphaMissense predicts ambiguous (score 0.5153) — an in-silico prediction, not a clinical call.

CEMIP p.Ala295Pro

c.883G>C · rs1279796791 · VCV3142151

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.5153 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/2 damaging

REVEL, SaProt · AlphaMissense no call

Computational evidence

Protein change
AlphaMissense	0.5153	ambiguous
REVEL	0.248	benign-leaning
SaProt	LLR -9.92	tolerated
⇒ REVEL and SaProt both call this tolerated; AlphaMissense makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 11	GERP 2.3, phastCons 1
Regional constraint	o/e 0.39	unconstrained · MANE · 1,044 bp · p 5.3e-05 · regional, not allelic
Overall
CADD	24.9	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: CEMIP
Protein: p.Ala295Pro
Coding: c.883G>C
MANE Select: NM_001293298
dbSNP: rs1279796791
Type: single nucleotide variant
Location: chr15:80888715 (GRCh38)
Gene constraint: LOEUF 0.764 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 90.69
Residue 295: the gg-type lectin 1 domain; the 'necessary for its endoplasmic reticulum (er) retention and interaction with hspa5' region

Full CEMIP gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CEMIP p.Ala33Val Uncertain significance ★★ ⚠ same type
CEMIP p.Gly870Asp Uncertain significance ★★ ⚠ same type
CEMIP c.1086+82T>A Benign ★★ same type
CEMIP c.1087-239G>A Benign ★★ same type
CEMIP c.1412-76G>A Benign ★★ same type
CEMIP c.1587+57A>G Benign ★★ same type
CEMIP c.1587+79G>A Benign ★★ same type
CEMIP c.1797+102T>C Benign ★★ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cemip-p-ala295pro (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown