L99V (p.Leu99Val) variant of IRF7 (Interferon regulatory factor 7)
L99V (p.Leu99Val) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L99V (p.Leu99Val) variant details
- p.Leu99Val
- gnomAD rs943352970
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- AlphaMissense 0.71
- MetaLR 0.97
- MetaSVM 1.09
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available