W20L (p.Trp20Leu) variant of PCCA (P05165)
W20L (p.Trp20Leu) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
W20L (p.Trp20Leu) variant details
- p.Trp20Leu
- gnomAD 13-100089179-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available