P138A (p.Pro138Ala) variant of GBA1 (P04062)
P138A (p.Pro138Ala) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P138A (p.Pro138Ala) variant details
- p.Pro138Ala
- ExAC rs767272691
- gnomAD rs767272691
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.23
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.89
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available