I870M (p.Ile870Met) variant of AR (Androgen receptor)
I870M (p.Ile870Met) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hypospadias 1, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
I870M (p.Ile870Met) variant details
- p.Ile870Met
- rs137852574
- ClinGen CA120723
- ClinVar RCV000010498
- UniProt VAR 004731
- Pathogenic
- Hypospadias 1, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- AlphaMissense 0.22
- MetaLR 0.62
- MetaSVM 0.06
- SIFT 0.00
- MutPred 0.76
- ClinVar: Pathogenic (Hypospadias 1, X-linked)
- EBI: Pathogenic (in PAIS)
- UniProt: Pathogenic (in PAIS)
- Structural context available
- Cited in: Mutations of the androgen receptor gene identified in perineal hypospadias. (PMID 8097257)
- Cited in: Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity… (PMID 8824883)