R780P (p.Arg780Pro) variant of AR (Androgen receptor)
R780P (p.Arg780Pro) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Androgen resistance syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
R780P (p.Arg780Pro) variant details
- p.Arg780Pro
- rs768366293
- ClinGen CA413426453
- ClinVar RCV003459915
- ExAC rs768366293
- Likely pathogenic
- Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 0.52
- MetaLR 0.86
- MetaSVM 0.89
- SIFT 0.21
- EVE 0.11
- ClinVar: Likely pathogenic (Androgen resistance syndrome)
- EBI: Likely pathogenic (in AIS)
- UniProt: Likely pathogenic (in AIS)
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)