R13G (p.Arg13Gly) variant of AR (Androgen receptor)
R13G (p.Arg13Gly) in AR (Androgen receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes population frequency data, experimental measurements, and structural context.
R13G (p.Arg13Gly) variant details
- p.Arg13Gly
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10101
- NCI-TCGA Cosmic COSV6596
- Ensembl rs1335991486
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- AR Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.327