A40V (p.Ala40Val) variant of IL6 (Interleukin-6)
A40V (p.Ala40Val) in IL6 (Interleukin-6) 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 0.27 / 1. The record also includes population frequency data and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- TOPMed rs1360685977
- gnomAD rs1360685977
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.23
- MetaLR 0.39
- MetaSVM -0.71
- CADD 17.20
- PolyPhen-2 0.55
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available