R616H (p.Arg616His) variant of AR (Androgen receptor)
R616H (p.Arg616His) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Kennedy disease; Androgen resistance syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R616H (p.Arg616His) variant details
- p.Arg616His
- rs754201976
- ClinGen CA10436525
- NCI-TCGA Cosmic COSV6596
- cosmic curated COSV65960
- Pathogenic
- Kennedy disease; Androgen resistance syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (Kennedy disease; Androgen resistance syndrome; not provided)
- EBI: Pathogenic (in AIS and PAIS)
- UniProt: Pathogenic (in AIS and PAIS)
- Population evidence available
- Structural context available
- Cited in: A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with… (PMID 7970939)
- Cited in: Complete androgen insensitivity due to mutations in the probable alpha-helical segments of the DNA-binding domain in… (PMID 8162033)