R34L (p.Arg34Leu) variant of MCM5 (P33992)
R34L (p.Arg34Leu) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R34L (p.Arg34Leu) variant details
- p.Arg34Leu
- TOPMed rs1016247988
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.20
- MetaLR 0.03
- MetaSVM -1.05
- CADD 23.90
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available