E46K (p.Glu46Lys) variant of HLA-DRA (P01903)
E46K (p.Glu46Lys) in HLA-DRA (P01903) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E46K (p.Glu46Lys) variant details
- p.Glu46Lys
- rs1429185771
- TOPMed rs1429185771
- cosmic curated COSV10469
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.25
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available