V41F (p.Val41Phe) variant of NR3C1 (Glucocorticoid receptor)
V41F (p.Val41Phe) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V41F (p.Val41Phe) variant details
- p.Val41Phe
- gnomAD rs1330057814
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.12
- CADD 22.50
- PolyPhen-2 0.24
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.122