R34H (p.Arg34His) variant of MCM2 (P49736)
R34H (p.Arg34His) in MCM2 (P49736) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R34H (p.Arg34His) variant details
- p.Arg34His
- ExAC rs749193916
- TOPMed rs749193916
- gnomAD rs749193916
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.16
- MetaLR 0.09
- MetaSVM -0.98
- CADD 24.60
- PolyPhen-2 0.47
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available