R44H (p.Arg44His) variant of MCM2 (P49736)
R44H (p.Arg44His) in MCM2 (P49736) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R44H (p.Arg44His) variant details
- p.Arg44His
- rs572334760
- ClinGen CA2595481
- ClinVar RCV004086700
- 1000Genomes rs572334760
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.28
- MetaLR 0.14
- MetaSVM -0.82
- CADD 32.00
- PolyPhen-2 0.83
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in DFNA70)
- UniProt: Uncertain significance (in DFNA70)
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available