L31P (p.Leu31Pro) variant of PCCA (P05165)
L31P (p.Leu31Pro) 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 and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- TOPMed rs1566436616
- gnomAD rs1566436616
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 26.20
- PolyPhen-2 0.67
- SIFT 0.00
- Population evidence available
- Structural context available