A13S (p.Ala13Ser) variant of PCCA (P05165)
A13S (p.Ala13Ser) in PCCA (P05165) 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, published literature, and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- gnomAD 13-100089157-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 17.10
- PolyPhen-2 0.07
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available