M750V (p.Met750Val) variant of AR (Androgen receptor)
M750V (p.Met750Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
M750V (p.Met750Val) variant details
- p.Met750Val
- rs1085307685
- ClinGen CA413424646
- ClinVar RCV000488944
- ClinVar RCV003766746
- Pathogenic
- Androgen resistance syndrome; Kennedy disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- AlphaMissense 0.28
- MetaLR 0.52
- MetaSVM -0.08
- SIFT 1.00
- EVE 0.04
- ClinVar: Pathogenic (Androgen resistance syndrome; Kennedy disease; not provided)
- EBI: Pathogenic (in PAIS and AIS)
- UniProt: Pathogenic (in PAIS and AIS)
- Structural context available
- Cited in: Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a… (PMID 1480178)
- Cited in: Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen… (PMID 1487249)