A43V (p.Ala43Val) variant of NR3C1 (Glucocorticoid receptor)
A43V (p.Ala43Val) in NR3C1 (Glucocorticoid receptor) is a missense change. 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.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- TOPMed rs1165357659
- gnomAD rs1165357659
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.01
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.008