E2G (p.Glu2Gly) variant of AR (Androgen receptor)
E2G (p.Glu2Gly) in AR (Androgen receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PAIS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- rs1929637005
- ClinGen CA413423592
- ClinVar RCV001056718
- Ensembl rs1929637005
- Uncertain significance
- in PAIS
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- AlphaMissense 0.89
- MetaLR 0.82
- MetaSVM 0.92
- SIFT 0.00
- MutPred 0.41
- EBI: Variant of uncertain significance (in PAIS)
- UniProt: Uncertain significance (in PAIS)
- Structural context available
- Cited in: Androgen Insensitivity Syndrome. (PMID 20301602)
- Cited in: Spinal and Bulbar Muscular Atrophy. (PMID 20301508)