D136N (p.Asp136Asn) variant of MSI1 (O43347)
D136N (p.Asp136Asn) in MSI1 (O43347) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D136N (p.Asp136Asn) variant details
- p.Asp136Asn
- rs1181920771
- TOPMed rs1181920771
- gnomAD rs1181920771
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.35
- CADD 24.30
- PolyPhen-2 0.32
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available