R37H (p.Arg37His) variant of MSI1 (O43347)
R37H (p.Arg37His) in MSI1 (O43347) is a missense change. Clinical records from ClinVar 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 0.80 / 1. The record also includes population frequency data and structural context.
R37H (p.Arg37His) variant details
- p.Arg37His
- gnomAD rs866298359
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.81
- CADD 28.90
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available