K40Q (p.Lys40Gln) variant of NR3C1 (Glucocorticoid receptor)
K40Q (p.Lys40Gln) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K40Q (p.Lys40Gln) variant details
- p.Lys40Gln
- TOPMed rs967705315
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.07
- CADD 22.60
- PolyPhen-2 0.30
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0317