Is DEXI p.Asp88His (c.262G>C) pathogenic?

DEXI p.Asp88His (c.262G>C) is classified Uncertain significance in DEXI (ClinVar, Single submitter, 1 submitter; last evaluated 2022-03-29). AlphaMissense: ambiguous (0.468); Absent from gnomAD v4.1.

How common is DEXI p.Asp88His (c.262G>C) in the general population?

DEXI p.Asp88His (c.262G>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about DEXI p.Asp88His (c.262G>C)?

AlphaMissense predicts ambiguous (score 0.468) — an in-silico prediction, not a clinical call.

DEXI p.Asp88His

c.262G>C · rs1596664178 · VCV2279910

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.468 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/2 damaging

REVEL, SaProt · AlphaMissense no call

Computational evidence

Protein change
AlphaMissense	0.468	ambiguous
REVEL	0.65	pathogenic-leaning
SaProt	LLR -7.82	tolerated
⇒ REVEL calls this damaging; SaProt does not; AlphaMissense makes no call.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 7.6	GERP 2, phastCons 1
Regional constraint	o/e 0.83	unconstrained · MANE · 284 bp · p 0.051 · regional, not allelic
Overall
CADD	33.0	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: DEXI
Protein: p.Asp88His
Coding: c.262G>C
MANE Select: NM_000246 · reported on NM_014015
dbSNP: rs1596664178
Type: single nucleotide variant
Location: chr16:10941744 (GRCh38)

Full DEXI 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/dexi-p-asp88his (accessed [today's date]).

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