R11I (p.Arg11Ile) variant of NR3C1 (Glucocorticoid receptor)
R11I (p.Arg11Ile) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R11I (p.Arg11Ile) variant details
- p.Arg11Ile
- cosmic curated COSV51540
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.12
- CADD 16.00
- PolyPhen-2 0.06
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.174