G3V (p.Gly3Val) variant of PCCA (P05165)
G3V (p.Gly3Val) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G3V (p.Gly3Val) variant details
- p.Gly3Val
- gnomAD 13-100089128-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available