L31P (p.Leu31Pro) variant of MCM5 (P33992)
L31P (p.Leu31Pro) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- gnomAD 22-35400530-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.27
- CADD 26.40
- PolyPhen-2 0.35
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available