L33V (p.Leu33Val) variant of NR3C1 (Glucocorticoid receptor)
L33V (p.Leu33Val) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L33V (p.Leu33Val) variant details
- p.Leu33Val
- ExAC rs751852777
- gnomAD rs751852777
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.14
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score 0.0346