R856L (p.Arg856Leu) variant of AR (Androgen receptor)
R856L (p.Arg856Leu) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Differences in sex development. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
R856L (p.Arg856Leu) variant details
- p.Arg856Leu
- rs9332971
- ClinGen CA10603633
- ClinVar RCV000349225
- ClinVar RCV005865286
- Pathogenic
- not provided; Differences in sex development
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 0.93
- MetaLR 0.97
- MetaSVM 1.09
- SIFT 0.01
- EVE 0.68
- ClinVar: Pathogenic (not provided; Differences in sex development)
- EBI: Pathogenic (in AIS)
- UniProt: Pathogenic (in AIS)
- Structural context available