A40D (p.Ala40Asp) variant of IL6 (Interleukin-6)
A40D (p.Ala40Asp) in IL6 (Interleukin-6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A40D (p.Ala40Asp) variant details
- p.Ala40Asp
- rs1360685977
- ClinGen CA366971860
- ClinVar RCV004104204
- TOPMed rs1360685977
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.23
- MetaLR 0.42
- MetaSVM -0.69
- CADD 21.90
- PolyPhen-2 0.89
- SIFT 0.17
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available