V3M (p.Val3Met) variant of AR (Androgen receptor)
V3M (p.Val3Met) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Kennedy disease; Hypospadias 1, X-linked; Partial androgen insensitivity syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V3M (p.Val3Met) variant details
- p.Val3Met
- rs778912582
- ClinGen CA10436200
- ClinVar RCV001988640
- ClinVar RCV002492261
- Conflicting interpretations
- Kennedy disease; Hypospadias 1, X-linked; Partial androgen insensitivity syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- AlphaMissense 0.83
- MetaLR 0.83
- MetaSVM 0.83
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Kennedy disease; Hypospadias 1, X-linked; Partial androgen insen)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- AR Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0027
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)
- Cited in: Spinal and Bulbar Muscular Atrophy. (PMID 20301508)