V34L (p.Val34Leu) variant of IL6R (P08887)
V34L (p.Val34Leu) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V34L (p.Val34Leu) variant details
- p.Val34Leu
- gnomAD 1-154429210-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.06
- MetaLR 0.02
- MetaSVM -1.05
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available