Is CEMP1 p.Arg161Ser (c.483G>T) pathogenic?

CEMP1 p.Arg161Ser (c.483G>T) is classified Uncertain significance in CEMP1 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-12-06). AlphaMissense: ambiguous (0.5632); Absent from gnomAD v4.1.

How common is CEMP1 p.Arg161Ser (c.483G>T) in the general population?

CEMP1 p.Arg161Ser (c.483G>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about CEMP1 p.Arg161Ser (c.483G>T)?

AlphaMissense predicts ambiguous (score 0.5632) — an in-silico prediction, not a clinical call.

CEMP1 p.Arg161Ser

c.483G>T · rs2066077394 · VCV2241798

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.5632 · 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	0.5632	ambiguous
REVEL	0.073	moderately benign-leaning
SaProt	LLR -5.89	tolerated
⇒ REVEL and SaProt both call this tolerated; AlphaMissense makes no call.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -1.3	GERP -0.95
Regional constraint	o/e 1.22	unconstrained · MANE · 740 bp · p 8.3e-05 · regional, not allelic
Overall
CADD	8.603	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: CEMP1
Protein: p.Arg161Ser
Coding: c.483G>T
MANE Select: NM_001330449 · reported on NM_001048212
dbSNP: rs2066077394
Type: single nucleotide variant
Location: chr16:2530591 (GRCh38)

Full CEMP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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/cemp1-p-arg161ser (accessed [today's date]).

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