S77R (p.Ser77Arg) variant of GBA1 (P04062)
S77R (p.Ser77Arg) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Gaucher disease; Gaucher disease type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S77R (p.Ser77Arg) variant details
- p.Ser77Arg
- rs368786234
- cosmic curated COSV10882
- ESP rs368786234
- ExAC rs368786234
- Uncertain significance
- not provided; Gaucher disease; Gaucher disease type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.64
- CADD 22.30
- PolyPhen-2 0.14
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available