I48T (p.Ile48Thr) variant of IL10RA (Q13651)
I48T (p.Ile48Thr) in IL10RA (Q13651) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I48T (p.Ile48Thr) variant details
- p.Ile48Thr
- ExAC rs766359230
- gnomAD rs766359230
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.38
- MetaLR 0.55
- MetaSVM -0.60
- CADD 22.80
- PolyPhen-2 0.87
- SIFT 0.18
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available