L11P (p.Leu11Pro) variant of PCCA (P05165)
L11P (p.Leu11Pro) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L11P (p.Leu11Pro) variant details
- p.Leu11Pro
- gnomAD 13-100089152-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available