D829V (p.Asp829Val) variant of AR (Androgen receptor)
D829V (p.Asp829Val) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Male infertility; Non-obstructive azoospermia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
D829V (p.Asp829Val) variant details
- p.Asp829Val
- rs2147537806
- ClinGen CA413427670
- ClinVar RCV001648509
- ClinVar RCV003984022
- Pathogenic
- Male infertility; Non-obstructive azoospermia
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- AlphaMissense 0.92
- MetaLR 0.93
- MetaSVM 1.07
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (Male infertility; Non-obstructive azoospermia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available