L27V (p.Leu27Val) variant of PCCA (P05165)
L27V (p.Leu27Val) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- gnomAD 13-100089199-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available