G36V (p.Gly36Val) variant of NR3C1 (Glucocorticoid receptor)
G36V (p.Gly36Val) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G36V (p.Gly36Val) variant details
- p.Gly36Val
- rs750532455
- NCI-TCGA Cosmic COSV5154
- cosmic curated COSV51544
- ExAC rs750532455
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.55
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.259