A429D (p.Ala429Asp) variant of AR (Androgen receptor)
A429D (p.Ala429Asp) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Male infertility with azoospermia or oligozoospermia due to single gene mutation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
A429D (p.Ala429Asp) variant details
- p.Ala429Asp
- rs2147321167
- ClinGen CA413426872
- ClinVar RCV003991619
- Ensembl rs2147321167
- Likely pathogenic
- Male infertility with azoospermia or oligozoospermia due to single gene mutation
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- AlphaMissense 0.09
- MetaLR 0.91
- MetaSVM 0.63
- SIFT 0.07
- EVE 0.09
- ClinVar: Likely pathogenic (Male infertility with azoospermia or oligozoospermia due to sing)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available