N14K (p.Asn14Lys) variant of NR3C1 (Glucocorticoid receptor)
N14K (p.Asn14Lys) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N14K (p.Asn14Lys) variant details
- p.Asn14Lys
- ExAC rs768900943
- gnomAD rs768900943
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.13
- CADD 7.48
- PolyPhen-2 0.01
- SIFT 0.71
- 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 -0.0685