V6A (p.Val6Ala) variant of IL10RA (Q13651)
V6A (p.Val6Ala) in IL10RA (Q13651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inflammatory bowel disease 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- rs768177135
- ClinGen CA6298791
- ClinVar RCV001926006
- ExAC rs768177135
- Uncertain significance
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.09
- MetaLR 0.17
- MetaSVM -0.97
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (Inflammatory bowel disease 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available