P10S (p.Pro10Ser) variant of PCCA (P05165)
P10S (p.Pro10Ser) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P10S (p.Pro10Ser) variant details
- p.Pro10Ser
- gnomAD 13-100089148-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.17
- PolyPhen-2 0.00
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available