E2K (p.Glu2Lys) variant of AR (Androgen receptor)
E2K (p.Glu2Lys) in AR (Androgen receptor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PAIS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- rs104894742
- ClinGen CA120767
- ClinVar RCV000010515
- UniProt VAR 004679
- Pathogenic
- in PAIS
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 12.20
- EBI: Pathogenic (in PAIS)
- UniProt: Pathogenic (in PAIS)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial… (PMID 8823308)
- Cited in: Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen… (PMID 10022458)