V6L (p.Val6Leu) variant of IL10RA (Q13651)
V6L (p.Val6Leu) in IL10RA (Q13651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inflammatory bowel disease 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
V6L (p.Val6Leu) variant details
- p.Val6Leu
- rs989694807
- ClinGen CA229439384
- ClinVar RCV000815632
- ClinVar RCV006279231
- Uncertain significance
- not provided; Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.10
- MetaLR 0.10
- MetaSVM -0.87
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Inflammatory bowel disease 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00019)
- Structural context available