P29A (p.Pro29Ala) variant of IL10RA (Q13651)
P29A (p.Pro29Ala) in IL10RA (Q13651) is a missense change. Clinical records from ClinVar 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 0.76 / 1. The record also includes population frequency data and structural context.
P29A (p.Pro29Ala) variant details
- p.Pro29Ala
- 1000Genomes rs201980658
- TOPMed rs201980658
- gnomAD rs201980658
- Uncertain significance
- Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.71
- MetaLR 0.87
- MetaSVM 0.88
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inflammatory bowel disease 28)
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available