E165A (p.Glu165Ala) variant of VSIR (Q9H7M9)
E165A (p.Glu165Ala) in VSIR (Q9H7M9) 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 0.40 / 1. The record also includes population frequency data and structural context.
E165A (p.Glu165Ala) variant details
- p.Glu165Ala
- rs142695132
- ClinGen CA209440034
- ClinVar RCV004485016
- ESP rs142695132
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.23
- CADD 27.20
- PolyPhen-2 0.46
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available