G3W (p.Gly3Trp) variant of PCCA (P05165)
G3W (p.Gly3Trp) 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.
G3W (p.Gly3Trp) variant details
- p.Gly3Trp
- gnomAD 13-100089127-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.57
- ESM-1b 0.00
- AlphaMissense 0.26
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available