K120Q (p.Lys120Gln) variant of NR3C1 (Glucocorticoid receptor)
K120Q (p.Lys120Gln) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
K120Q (p.Lys120Gln) variant details
- p.Lys120Gln
- ExAC rs567678166
- gnomAD rs567678166
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.03
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the South Asian population (allele frequency 0.00041)