N693K (p.Asn693Lys) variant of AR (Androgen receptor)
N693K (p.Asn693Lys) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Androgen resistance syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
N693K (p.Asn693Lys) variant details
- p.Asn693Lys
- rs2147524944
- ClinGen CA413423368
- ClinVar RCV003986047
- Ensembl rs2147524944
- Likely pathogenic
- Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- AlphaMissense 0.54
- MetaLR 0.95
- MetaSVM 1.00
- SIFT 0.02
- EVE 0.12
- ClinVar: Likely pathogenic (Androgen resistance syndrome)
- EBI: Likely pathogenic (in AIS)
- UniProt: Likely pathogenic (in AIS)
- Population evidence available
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)