T46A (p.Thr46Ala) variant of IL10RA (Q13651)
T46A (p.Thr46Ala) in IL10RA (Q13651) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inflammatory bowel disease 28; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
T46A (p.Thr46Ala) variant details
- p.Thr46Ala
- rs112317511
- ClinGen CA6298839
- ClinVar RCV000524699
- ClinVar RCV001701041
- Benign/Likely benign
- Inflammatory bowel disease 28; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.12
- MetaLR 0.15
- MetaSVM -0.79
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Benign/Likely benign (Inflammatory bowel disease 28; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SAN population (allele frequency 0.33)
- Structural context available