Q42H (p.Gln42His) variant of MSI1 (O43347)
Q42H (p.Gln42His) 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 0.34 / 1. The record also includes population frequency data and structural context.
Q42H (p.Gln42His) variant details
- p.Gln42His
- gnomAD rs998335180
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.13
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available