A33V (p.Ala33Val) variant of GBA1 (P04062)
A33V (p.Ala33Val) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- ExAC rs776856496
- TOPMed rs776856496
- gnomAD rs776856496
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.38
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.24
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available