L24V (p.Leu24Val) variant of MCM2 (P49736)
L24V (p.Leu24Val) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L24V (p.Leu24Val) variant details
- p.Leu24Val
- gnomAD 3-127599381-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -0.99
- CADD 17.40
- PolyPhen-2 0.36
- SIFT 0.52
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available