Is GLA p.Asp234Val (c.701A>T) pathogenic?

GLA p.Asp234Val (c.701A>T) is classified Uncertain significance in GLA (ClinVar, Single submitter, 1 submitter; last evaluated 2017-12-29). AlphaMissense: likely pathogenic (0.7025); Absent from gnomAD v4.1.

How common is GLA p.Asp234Val (c.701A>T) in the general population?

GLA p.Asp234Val (c.701A>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about GLA p.Asp234Val (c.701A>T)?

AlphaMissense predicts likely pathogenic (score 0.7025) — an in-silico prediction, not a clinical call.

GLA p.Asp234Val

c.701A>T · rs1569303289 · VCV595642

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.7025 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

3/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.7025	likely pathogenic
REVEL	0.953	strongly pathogenic-leaning
SaProt	LLR -12.88	damaging
⇒ AlphaMissense, REVEL and SaProt all call this damaging.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 7.9	GERP 3.2, phastCons 1
Regional constraint	o/e 0.66	unconstrained · MANE · 6,067 bp · p 6.6e-08 · regional, not allelic
Overall
CADD	26.1	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean damaging — a triage signal, not a reclassification

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: GLA
Protein: p.Asp234Val
Coding: c.701A>T
dbSNP: rs1569303289
Type: single nucleotide variant
Location: chrX:101398885 (GRCh38)

Full GLA 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/gla-p-asp234val (accessed [today's date]).

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