I126V (p.Ile126Val) variant of NR3C1 (Glucocorticoid receptor)
I126V (p.Ile126Val) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
I126V (p.Ile126Val) variant details
- p.Ile126Val
- ExAC rs776690628
- TOPMed rs776690628
- gnomAD rs776690628
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.22
- CADD 26.00
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)