G18V (p.Gly18Val) variant of PCCA (P05165)
G18V (p.Gly18Val) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- gnomAD 13-100089173-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 18.00
- PolyPhen-2 0.03
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available