R48C (p.Arg48Cys) variant of MCM5 (P33992)
R48C (p.Arg48Cys) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R48C (p.Arg48Cys) variant details
- p.Arg48Cys
- gnomAD 22-35400580-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.29
- CADD 32.00
- PolyPhen-2 0.72
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available