N757S (p.Asn757Ser) variant of AR (Androgen receptor)
N757S (p.Asn757Ser) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Male infertility; Androgen resistance syndrome; Partial androgen insensitivity s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
N757S (p.Asn757Ser) variant details
- p.Asn757Ser
- rs141425171
- ClinGen CA10436608
- cosmic curated COSV65965
- ClinVar RCV003314884
- Pathogenic/Likely pathogenic
- Male infertility; Androgen resistance syndrome; Partial androgen insensitivity s
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- AlphaMissense 0.26
- MetaLR 0.97
- MetaSVM 1.05
- SIFT 0.00
- EVE 0.47
- ClinVar: Pathogenic/Likely pathogenic (Male infertility; Androgen resistance syndrome; Partial androgen)
- EBI: Pathogenic (in PAIS)
- UniProt: Pathogenic (in PAIS)
- Population evidence available
- Structural context available
- Cited in: The clinical and molecular spectrum of androgen insensitivity syndromes. (PMID 8723113)
- Cited in: Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen… (PMID 10022458)