L27P (p.Leu27Pro) variant of PCCA (P05165)
L27P (p.Leu27Pro) in PCCA (P05165) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- gnomAD 13-100089200-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 20.10
- PolyPhen-2 0.02
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available