V74M (p.Val74Met) variant of MSI1 (O43347)
V74M (p.Val74Met) in MSI1 (O43347) 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 0.56 / 1. The record also includes population frequency data and structural context.
V74M (p.Val74Met) variant details
- p.Val74Met
- rs777720670
- ClinGen CA6827863
- ClinVar RCV004293901
- ExAC rs777720670
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.38
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available