R40K (p.Arg40Lys) variant of AR (Androgen receptor)
R40K (p.Arg40Lys) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Kennedy disease; Androgen resistance syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R40K (p.Arg40Lys) variant details
- p.Arg40Lys
- rs147842041
- ClinGen CA10436213
- ClinVar RCV003808760
- ESP rs147842041
- Likely benign
- Kennedy disease; Androgen resistance syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.25
- MetaLR 0.86
- MetaSVM 0.48
- SIFT 0.00
- MutPred 0.64
- ClinVar: Likely benign (Kennedy disease; Androgen resistance syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- AR Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -1.13
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)
- Cited in: Spinal and Bulbar Muscular Atrophy. (PMID 20301508)