F3S (p.Phe3Ser) variant of GBA1 (P04062)
F3S (p.Phe3Ser) in GBA1 (P04062) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
F3S (p.Phe3Ser) variant details
- p.Phe3Ser
- ExAC rs776015590
- gnomAD rs776015590
- Uncertain significance
- Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.37
- CADD 7.11
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Gaucher disease)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available