L11V (p.Leu11Val) variant of PCCA (P05165)
L11V (p.Leu11Val) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- gnomAD 13-100089151-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 17.80
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available