N692K (p.Asn692Lys) variant of AR (Androgen receptor)
N692K (p.Asn692Lys) 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 published literature and structural context.
N692K (p.Asn692Lys) variant details
- p.Asn692Lys
- rs2147524930
- Ensembl rs2147524930
- ClinGen CA413423359
- ClinVar RCV002272808
- Likely pathogenic
- Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- AlphaMissense 0.94
- MetaLR 0.89
- MetaSVM 0.80
- SIFT 0.02
- EVE 0.16
- ClinVar: Likely pathogenic (Androgen resistance syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)