A5V (p.Ala5Val) variant of MSI1 (O43347)
A5V (p.Ala5Val) 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 0.29 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- rs1277433654
- ClinGen CA386573382
- ClinVar RCV004498410
- TOPMed rs1277433654
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.06
- CADD 22.20
- PolyPhen-2 0.06
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available