V34A (p.Val34Ala) variant of GBA1 (P04062)
V34A (p.Val34Ala) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
V34A (p.Val34Ala) variant details
- p.Val34Ala
- ExAC rs745860677
- TOPMed rs745860677
- gnomAD rs745860677
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.39
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available