G15V (p.Gly15Val) variant of PCCA (P05165)
G15V (p.Gly15Val) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G15V (p.Gly15Val) variant details
- p.Gly15Val
- gnomAD 13-100089164-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.90
- PolyPhen-2 0.60
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available