GLA p.Ser65Ala
c.193_194delinsGC · VCV4974850
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Fabry disease
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 3.3, phastCons 1 |
| Regional constraint | o/e 0.25 | constrained · MANE · 3,899 bp · p 4.8e-07 · regional, not allelic |
Variant & gene context
- Gene
- GLA
- Protein
- p.Ser65Ala
- Coding
- c.193_194delinsGC
- MANE Select
- NM_000169
- Type
- Indel
- Location
- chrX:101407710 (GRCh38)
- Structure
- AlphaFold pLDDT 94.45 · 31 PDB
- Residue 65
- a β-strand; a UniProt-annotated variant site (in fabryd; does not affect enzyme function)
Disease context
Fabry disease — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Fabry disease (Orphanet):
- Inheritance
- X-linked dominant, X-linked recessive
- Onset
- Adolescent, Adult, Childhood
- Prevalence
- 1-9 / 1 000 000 (Worldwide)
Similar variants
- GLA p.Ser65Ile Pathogenic/Likely pathogenic ★★ same residue
- GLA p.Ser65= Likely benign ★★ same residue
- GLA p.Ser65Thr Pathogenic ★ ⚠ same residue
- GLA p.Ser65Asn Uncertain significance ★ ⚠ same residue
- GLA p.Ala368fs Pathogenic ★★ same condition
- GLA p.Asp55_Gln57delinsValCysLeu Pathogenic/Likely pathogenic ★★ same condition
- GLA c.195-13_195-12delinsGC Uncertain significance ★★ same condition
- GLA p.Arg332Glu Uncertain significance ★★ same condition
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-ser65ala (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown