S28C (p.Ser28Cys) variant of PCCA (P05165)
S28C (p.Ser28Cys) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S28C (p.Ser28Cys) variant details
- p.Ser28Cys
- gnomAD rs1224532097
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.30
- PolyPhen-2 0.41
- SIFT 0.00
- Population evidence available
- Structural context available