G7V (p.Gly7Val) variant of PCCA (P05165)
G7V (p.Gly7Val) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G7V (p.Gly7Val) variant details
- p.Gly7Val
- gnomAD 13-100089140-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 19.10
- PolyPhen-2 0.40
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available