I9V (p.Ile9Val) variant of IFNAR2 (Interferon alpha/beta receptor 2)
I9V (p.Ile9Val) in IFNAR2 (Interferon alpha/beta receptor 2) 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.
I9V (p.Ile9Val) variant details
- p.Ile9Val
- rs1021194427
- gnomAD 21-33230556-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.76
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available