V113A (p.Val113Ala) variant of MSI1 (O43347)
V113A (p.Val113Ala) 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 0.58 / 1. The record also includes population frequency data and structural context.
V113A (p.Val113Ala) variant details
- p.Val113Ala
- Ensembl rs1875781881
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.54
- CADD 26.40
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available