R34L (p.Arg34Leu) variant of MCM2 (P49736)
R34L (p.Arg34Leu) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R34L (p.Arg34Leu) variant details
- p.Arg34Leu
- gnomAD 3-127599412-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.21
- MetaLR 0.07
- MetaSVM -1.06
- CADD 23.20
- PolyPhen-2 0.14
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available