R98W (p.Arg98Trp) variant of MSI1 (O43347)
R98W (p.Arg98Trp) 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 0.73 / 1. The record also includes population frequency data and structural context.
R98W (p.Arg98Trp) variant details
- p.Arg98Trp
- rs769131701
- ClinGen CA244420025
- ClinVar RCV004176943
- Ensembl rs769131701
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.82
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available