K17N (p.Lys17Asn) variant of AR (Androgen receptor)
K17N (p.Lys17Asn) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Kennedy disease; Androgen resistance syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K17N (p.Lys17Asn) variant details
- p.Lys17Asn
- rs370971743
- ClinGen CA10436207
- NCI-TCGA Cosmic COSV6595
- cosmic curated COSV65955
- Likely benign
- Kennedy disease; Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- AlphaMissense 0.85
- MetaLR 0.83
- MetaSVM 0.44
- SIFT 0.00
- MutPred 0.58
- ClinVar: Likely benign (Kennedy disease; Androgen resistance syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- AR Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.645
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)
- Cited in: Spinal and Bulbar Muscular Atrophy. (PMID 20301508)