V39A (p.Val39Ala) variant of NR3C1 (Glucocorticoid receptor)
V39A (p.Val39Ala) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glucocorticoid resistance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V39A (p.Val39Ala) variant details
- p.Val39Ala
- ExAC rs762480353
- gnomAD rs762480353
- Uncertain significance
- Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.03
- CADD 19.70
- PolyPhen-2 0.08
- SIFT 0.02
- ClinVar: Uncertain significance (Glucocorticoid resistance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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 -0.951