N50K (p.Asn50Lys) variant of IL10RA (Q13651)
N50K (p.Asn50Lys) 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 0.17 / 1. The record also includes population frequency data and structural context.
N50K (p.Asn50Lys) variant details
- p.Asn50Lys
- rs1041042952
- ClinGen CA229440972
- ClinVar RCV002741489
- TOPMed rs1041042952
- Uncertain significance
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.17
- MetaLR 0.22
- MetaSVM -1.00
- CADD 6.96
- PolyPhen-2 0.03
- SIFT 0.05
- ClinVar: Uncertain significance (Inflammatory bowel disease 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available