P110S (p.Pro110Ser) variant of GBA1 (P04062)
P110S (p.Pro110Ser) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P110S (p.Pro110Ser) variant details
- p.Pro110Ser
- gnomAD rs1487778472
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.45
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.45
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available