N130H (p.Asn130His) variant of NR3C1 (Glucocorticoid receptor)
N130H (p.Asn130His) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
N130H (p.Asn130His) variant details
- p.Asn130His
- gnomAD rs1197425994
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.18
- CADD 25.60
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)