A2V (p.Ala2Val) variant of IRF7 (Interferon regulatory factor 7)
A2V (p.Ala2Val) in IRF7 (Interferon regulatory factor 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- TOPMed rs1856783835
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- AlphaMissense 0.62
- MetaLR 0.92
- MetaSVM 1.03
- CADD 16.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available