N130S (p.Asn130Ser) variant of NR3C1 (Glucocorticoid receptor)
N130S (p.Asn130Ser) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data.
N130S (p.Asn130Ser) variant details
- p.Asn130Ser
- ESP rs72481830
- ExAC rs72481830
- TOPMed rs72481830
- gnomAD rs72481830
- Missense
- Variant Prioritization Score for Impact Estimate 0.0544
- REVEL 0.04
- CADD 3.81
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the South Asian population (allele frequency 0.00041)