L84V (p.Leu84Val) variant of NR3C1 (Glucocorticoid receptor)
L84V (p.Leu84Val) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
L84V (p.Leu84Val) variant details
- p.Leu84Val
- rs770476389
- ClinGen CA3487107
- ClinVar RCV003320451
- ExAC rs770476389
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.27
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.22
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)