H22P (p.His22Pro) variant of IL10RA (Q13651)
H22P (p.His22Pro) 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 0.39 / 1. The record also includes population frequency data and structural context.
H22P (p.His22Pro) variant details
- p.His22Pro
- rs1249233978
- ClinGen CA382772038
- ClinVar RCV001947356
- gnomAD rs1249233978
- Uncertain significance
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.41
- MetaLR 0.31
- MetaSVM -0.65
- CADD 23.40
- PolyPhen-2 0.50
- SIFT 0.17
- ClinVar: Uncertain significance (Inflammatory bowel disease 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available