D30V (p.Asp30Val) variant of IFNAR2 (Interferon alpha/beta receptor 2)
D30V (p.Asp30Val) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
D30V (p.Asp30Val) variant details
- p.Asp30Val
- gnomAD 21-33243706-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0545
- REVEL 0.03
- CADD 3.44
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available