K54R (p.Lys54Arg) variant of MCM5 (P33992)
K54R (p.Lys54Arg) in MCM5 (P33992) 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.
K54R (p.Lys54Arg) variant details
- p.Lys54Arg
- gnomAD 22-35400599-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.16
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available