A871V (p.Ala871Val) variant of AR (Androgen receptor)
A871V (p.Ala871Val) 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 Androgen resistance syndrome; Kennedy disease; Differences in sex development. 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.
A871V (p.Ala871Val) variant details
- p.Ala871Val
- rs143040492
- ClinGen CA10436703
- NCI-TCGA Cosmic COSV6595
- cosmic curated COSV65957
- Pathogenic/Likely pathogenic
- Androgen resistance syndrome; Kennedy disease; Differences in sex development
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- AlphaMissense 0.24
- MetaLR 0.87
- MetaSVM 0.90
- SIFT 1.00
- EVE 0.58
- ClinVar: Pathogenic/Likely pathogenic (Androgen resistance syndrome; Kennedy disease; Differences in se)
- EBI: Pathogenic (in PAIS)
- UniProt: Pathogenic (in PAIS)
- Population evidence available
- Structural context available
- Cited in: Molecular characterization of the androgen receptor gene in boys with hypospadias. (PMID 8033918)
- Cited in: Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen… (PMID 10022458)