V6D (p.Val6Asp) variant of PCCA (P05165)
V6D (p.Val6Asp) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V6D (p.Val6Asp) variant details
- p.Val6Asp
- gnomAD 13-100089137-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.58
- ESM-1b 0.25
- AlphaMissense 0.21
- CADD 13.70
- PolyPhen-2 0.05
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available