V890M (p.Val890Met) variant of AR (Androgen receptor)
V890M (p.Val890Met) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Androgen resistance syndrome; Kennedy disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
V890M (p.Val890Met) variant details
- p.Val890Met
- rs886041133
- ClinGen CA10603685
- NCI-TCGA Cosmic COSV6595
- cosmic curated COSV65955
- Pathogenic
- Androgen resistance syndrome; Kennedy disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- AlphaMissense 0.88
- MetaLR 0.99
- MetaSVM 0.95
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic (Androgen resistance syndrome; Kennedy disease; not provided)
- EBI: Pathogenic (in AIS and PAIS)
- UniProt: Pathogenic (in AIS and PAIS)
- Population evidence available
- Structural context available
- Cited in: Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome. (PMID 8126121)
- Cited in: Molecular analysis of androgen resistance syndromes in Egyptian patients. (PMID 9160185)