V12A (p.Val12Ala) variant of IFNAR1 (Interferon alpha/beta receptor 1)
V12A (p.Val12Ala) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V12A (p.Val12Ala) variant details
- p.Val12Ala
- gnomAD 21-33325090-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.21
- MetaLR 0.38
- MetaSVM -0.63
- CADD 18.40
- PolyPhen-2 0.30
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available