L31M (p.Leu31Met) variant of PCCA (P05165)
L31M (p.Leu31Met) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L31M (p.Leu31Met) variant details
- p.Leu31Met
- gnomAD 13-100089211-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available