V56A (p.Val56Ala) variant of IFNAR1 (Interferon alpha/beta receptor 1)
V56A (p.Val56Ala) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
V56A (p.Val56Ala) variant details
- p.Val56Ala
- gnomAD 21-33335614-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.13
- MetaLR 0.26
- MetaSVM -1.01
- CADD 0.62
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the South Asian population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available