R34C (p.Arg34Cys) variant of MCM5 (P33992)
R34C (p.Arg34Cys) in MCM5 (P33992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R34C (p.Arg34Cys) variant details
- p.Arg34Cys
- gnomAD rs1932010959
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.23
- MetaLR 0.07
- MetaSVM -1.10
- CADD 32.00
- PolyPhen-2 0.72
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available