R4Q (p.Arg4Gln) variant of IL15RA (Q13261)
R4Q (p.Arg4Gln) in IL15RA (Q13261) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- TOPMed rs995914515
- gnomAD rs995914515
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.071
- REVEL 0.02
- CADD 10.40
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.0011)
- Structural context available