G68S (p.Gly68Ser) variant of IL15RA (Q13261)
G68S (p.Gly68Ser) 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 0.51 / 1. The record also includes population frequency data and structural context.
G68S (p.Gly68Ser) variant details
- p.Gly68Ser
- ExAC rs757744776
- TOPMed rs757744776
- gnomAD rs757744776
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.32
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available