P30L (p.Pro30Leu) variant of IL10RA (Q13651)
P30L (p.Pro30Leu) in IL10RA (Q13651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inflammatory bowel disease 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- rs749622044
- ClinGen CA6298831
- ClinVar RCV001105571
- ClinVar RCV003326540
- Conflicting interpretations
- not provided; Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.15
- MetaLR 0.23
- MetaSVM -0.89
- CADD 15.50
- PolyPhen-2 0.33
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inflammatory bowel disease 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0012)
- Structural context available