E773K (p.Glu773Lys) variant of AR (Androgen receptor)
E773K (p.Glu773Lys) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Partial androgen insensitivity syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
E773K (p.Glu773Lys) variant details
- p.Glu773Lys
- rs2147531195
- ClinGen CA413424806
- ClinVar RCV003238162
- Ensembl rs2147531195
- Likely pathogenic
- Partial androgen insensitivity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.991
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Partial androgen insensitivity syndrome)
- EBI: Likely pathogenic (in PAIS)
- UniProt: Likely pathogenic (in PAIS)
- Structural context available