P3Q (p.Pro3Gln) variant of IL10RA (Q13651)
P3Q (p.Pro3Gln) in IL10RA (Q13651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inflammatory bowel disease 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P3Q (p.Pro3Gln) variant details
- p.Pro3Gln
- rs56008037
- ClinGen CA6298789
- ClinVar RCV000913660
- 1000Genomes rs56008037
- Likely benign
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.22
- MetaLR 0.18
- MetaSVM -0.88
- CADD 6.99
- PolyPhen-2 0.64
- SIFT 0.24
- ClinVar: Likely benign (Inflammatory bowel disease 28)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available