E74D (p.Glu74Asp) variant of IL15RA (Q13261)
E74D (p.Glu74Asp) in IL15RA (Q13261) is a missense change. Clinical records from ClinVar 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 0.34 / 1. The record also includes population frequency data and structural context.
E74D (p.Glu74Asp) variant details
- p.Glu74Asp
- ESP rs375065387
- ExAC rs375065387
- TOPMed rs375065387
- gnomAD rs375065387
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.08
- CADD 12.00
- PolyPhen-2 0.70
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available