S77N (p.Ser77Asn) variant of GBA1 (P04062)
S77N (p.Ser77Asn) in GBA1 (P04062) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S77N (p.Ser77Asn) variant details
- p.Ser77Asn
- TOPMed rs1671990152
- Likely pathogenic
- Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.48
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Likely pathogenic (Gaucher disease)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available