L15R (p.Leu15Arg) variant of IL10RA (Q13651)
L15R (p.Leu15Arg) in IL10RA (Q13651) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L15R (p.Leu15Arg) variant details
- p.Leu15Arg
- TOPMed rs1452066804
- gnomAD rs1452066804
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.48
- MetaLR 0.35
- MetaSVM -0.78
- CADD 21.00
- PolyPhen-2 0.07
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available