A24V (p.Ala24Val) variant of IFNAR1 (Interferon alpha/beta receptor 1)
A24V (p.Ala24Val) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- rs779701967
- UniProt VAR 084085
- ExAC rs779701967
- gnomAD rs779701967
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.41
- MetaLR 0.57
- MetaSVM -0.32
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.15
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.0002)
- Structural context available
- Cited in: Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. (PMID 32972995)