V867L (p.Val867Leu) variant of AR (Androgen receptor)
V867L (p.Val867Leu) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Partial androgen insensitivity syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
V867L (p.Val867Leu) variant details
- p.Val867Leu
- rs137852564
- ClinGen CA120718
- ClinVar RCV000010496
- UniProt VAR 004729
- Pathogenic
- Partial androgen insensitivity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- AlphaMissense 0.36
- MetaLR 0.94
- MetaSVM 1.08
- SIFT 0.64
- EVE 0.05
- ClinVar: Pathogenic (Partial androgen insensitivity syndrome)
- EBI: Pathogenic (in PAIS)
- UniProt: Pathogenic (in PAIS)
- Structural context available
- Cited in: Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome. (PMID 1424203)
- Cited in: Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen… (PMID 8325950)