M1L (p.Met1Leu) variant of AR (Androgen receptor)
M1L (p.Met1Leu) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Androgen resistance syndrome; Kennedy disease; Differences in sex development. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes experimental measurements, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2147313671
- ClinGen CA413423582
- ClinVar RCV001964227
- Pathogenic
- Androgen resistance syndrome; Kennedy disease; Differences in sex development
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- MetaLR 0.82
- MetaSVM 0.78
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic (Androgen resistance syndrome; Kennedy disease; Differences in se)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- AR Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score 0.172
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)
- Cited in: Spinal and Bulbar Muscular Atrophy. (PMID 20301508)