V686L (p.Val686Leu) variant of AR (Androgen receptor)
V686L (p.Val686Leu) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Partial androgen insensitivity syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
V686L (p.Val686Leu) variant details
- p.Val686Leu
- rs2147524833
- ClinGen CA413423315
- ClinVar RCV002273049
- Ensembl rs2147524833
- Likely pathogenic
- Partial androgen insensitivity syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- AlphaMissense 0.77
- MetaLR 0.99
- MetaSVM 0.99
- SIFT 0.07
- EVE 0.23
- ClinVar: Likely pathogenic (Partial androgen insensitivity syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available