V41L (p.Val41Leu) variant of IRF4 (Interferon regulatory factor 4)
V41L (p.Val41Leu) in IRF4 (Interferon regulatory factor 4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
V41L (p.Val41Leu) variant details
- p.Val41Leu
- ExAC rs751037944
- gnomAD rs751037944
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.57
- CADD 23.20
- PolyPhen-2 0.07
- SIFT 0.21
- MutPred 0.34
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00026)
- Structural context available