N130I (p.Asn130Ile) variant of NR3C1 (Glucocorticoid receptor)
N130I (p.Asn130Ile) 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.
N130I (p.Asn130Ile) variant details
- p.Asn130Ile
- ESP rs72481830
- ExAC rs72481830
- TOPMed rs72481830
- gnomAD rs72481830
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.16
- CADD 16.90
- PolyPhen-2 0.38
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)