E72G (p.Glu72Gly) variant of IL10 (Interleukin-10)
E72G (p.Glu72Gly) in IL10 (Interleukin-10) 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 0.48 / 1. The record also includes population frequency data and structural context.
E72G (p.Glu72Gly) variant details
- p.Glu72Gly
- rs545228684
- ClinGen CA1363810
- ClinVar RCV004143279
- 1000Genomes rs545228684
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.44
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available