L25P (p.Leu25Pro) variant of PCCA (P05165)
L25P (p.Leu25Pro) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L25P (p.Leu25Pro) variant details
- p.Leu25Pro
- gnomAD 13-100089194-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 24.00
- PolyPhen-2 0.33
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available