R32L (p.Arg32Leu) variant of PCCA (P05165)
R32L (p.Arg32Leu) 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.
R32L (p.Arg32Leu) variant details
- p.Arg32Leu
- gnomAD 13-100089215-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.68
- Population evidence available
- Structural context available
- Literature evidence available