P137A (p.Pro137Ala) variant of GBA1 (P04062)
P137A (p.Pro137Ala) 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.
P137A (p.Pro137Ala) variant details
- p.Pro137Ala
- gnomAD rs1557906585
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.40
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available