V4A (p.Val4Ala) variant of IL6R (P08887)
V4A (p.Val4Ala) in IL6R (P08887) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V4A (p.Val4Ala) variant details
- p.Val4Ala
- rs1687658446
- gnomAD 1-154405634-TGGCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 25.60
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available