E164D (p.Glu164Asp) variant of MSI1 (O43347)
E164D (p.Glu164Asp) 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 0.38 / 1. The record also includes population frequency data and structural context.
E164D (p.Glu164Asp) variant details
- p.Glu164Asp
- rs2500233382
- ClinGen CA386567678
- ClinVar RCV004498417
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.38
- CADD 16.30
- PolyPhen-2 0.05
- SIFT 0.82
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available