T24K (p.Thr24Lys) variant of IL10RA (Q13651)
T24K (p.Thr24Lys) 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 0.45 / 1. The record also includes published literature and structural context.
T24K (p.Thr24Lys) variant details
- p.Thr24Lys
- rs2058000912
- ClinGen CA382772516
- ClinVar RCV002609377
- ClinVar RCV004065815
- Uncertain significance
- Inborn genetic diseases; Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- AlphaMissense 0.14
- MetaLR 0.37
- MetaSVM -0.49
- PolyPhen-2 0.03
- SIFT 0.15
- EVE 0.62
- ClinVar: Uncertain significance (Inborn genetic diseases; Inflammatory bowel disease 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)