P38A (p.Pro38Ala) variant of IL10 (Interleukin-10)
P38A (p.Pro38Ala) in IL10 (Interleukin-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inflammatory bowel disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P38A (p.Pro38Ala) variant details
- p.Pro38Ala
- rs932830694
- ClinGen CA36550762
- ClinVar RCV002715848
- TOPMed rs932830694
- Uncertain significance
- Inflammatory bowel disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.52
- CADD 20.30
- PolyPhen-2 0.09
- SIFT 0.01
- ClinVar: Uncertain significance (Inflammatory bowel disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available