G18W (p.Gly18Trp) variant of PCCA (P05165)
G18W (p.Gly18Trp) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G18W (p.Gly18Trp) variant details
- p.Gly18Trp
- gnomAD 13-100089172-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available