P94S (p.Pro94Ser) variant of GBA1 (P04062)
P94S (p.Pro94Ser) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P94S (p.Pro94Ser) variant details
- p.Pro94Ser
- TOPMed rs1671985395
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.26
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.95
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available