P27L (p.Pro27Leu) variant of IL10RA (Q13651)
P27L (p.Pro27Leu) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- rs755758777
- ClinGen CA6298829
- ClinVar RCV000330022
- ClinVar RCV004021497
- Uncertain significance
- Inborn genetic diseases; Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.50
- MetaLR 0.45
- MetaSVM -0.49
- CADD 24.80
- PolyPhen-2 0.85
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases; Inflammatory bowel disease 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- 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)