R787Q (p.Arg787Gln) variant of AR (Androgen receptor)
R787Q (p.Arg787Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R787Q (p.Arg787Gln) variant details
- p.Arg787Gln
- rs764684648
- ClinGen CA330772231
- NCI-TCGA Cosmic COSV6595
- cosmic curated COSV65954
- Likely pathogenic
- Male infertility
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- AlphaMissense 0.63
- MetaLR 0.89
- MetaSVM 0.99
- SIFT 0.01
- EVE 0.23
- ClinVar: Likely pathogenic (Male infertility)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available