R18L (p.Arg18Leu) variant of MCM2 (P49736)
R18L (p.Arg18Leu) 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.
R18L (p.Arg18Leu) variant details
- p.Arg18Leu
- gnomAD 3-127599364-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.10
- MetaLR 0.08
- MetaSVM -1.04
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available