R17H (p.Arg17His) variant of MCM2 (P49736)
R17H (p.Arg17His) in MCM2 (P49736) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R17H (p.Arg17His) variant details
- p.Arg17His
- Ensembl rs866230256
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.13
- MetaLR 0.09
- MetaSVM -1.04
- CADD 22.60
- PolyPhen-2 0.52
- SIFT 0.06
- Most common in the HGDP:MONGOLIAN population (allele frequency 0.05)
- Structural context available