E25D (p.Glu25Asp) variant of IL10RA (Q13651)
E25D (p.Glu25Asp) in IL10RA (Q13651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; Inflammatory bowel disease 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
E25D (p.Glu25Asp) variant details
- p.Glu25Asp
- rs150140303
- ClinGen CA6298827
- ClinVar RCV000647212
- ClinVar RCV001702540
- Benign
- not provided; Inflammatory bowel disease 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.10
- MetaLR 0.18
- MetaSVM -0.91
- CADD 8.38
- PolyPhen-2 0.02
- SIFT 0.16
- ClinVar: Benign (not provided; Inflammatory bowel disease 28)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available