A21D (p.Ala21Asp) variant of IL6R (P08887)
A21D (p.Ala21Asp) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A21D (p.Ala21Asp) variant details
- p.Ala21Asp
- gnomAD 1-154405691-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.04
- CADD 9.47
- PolyPhen-2 0.83
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available