R48L (p.Arg48Leu) variant of MCM5 (P33992)
R48L (p.Arg48Leu) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R48L (p.Arg48Leu) variant details
- p.Arg48Leu
- ExAC rs768649710
- gnomAD rs768649710
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.21
- MetaLR 0.12
- MetaSVM -0.89
- CADD 24.30
- PolyPhen-2 0.20
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available