R17C (p.Arg17Cys) variant of MCM2 (P49736)
R17C (p.Arg17Cys) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R17C (p.Arg17Cys) variant details
- p.Arg17Cys
- ExAC rs765085888
- gnomAD rs765085888
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.15
- MetaLR 0.11
- MetaSVM -0.95
- CADD 23.40
- PolyPhen-2 0.69
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available