R16P (p.Arg16Pro) variant of IL10RA (Q13651)
R16P (p.Arg16Pro) in IL10RA (Q13651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Inflammatory bowel disease 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R16P (p.Arg16Pro) variant details
- p.Arg16Pro
- rs75769905
- ClinGen CA6298794
- ClinVar RCV001054870
- ClinVar RCV004031735
- Uncertain significance
- Inborn genetic diseases; Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.35
- MetaLR 0.18
- MetaSVM -0.93
- CADD 18.30
- PolyPhen-2 0.55
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases; Inflammatory bowel disease 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00075)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)