P46S (p.Pro46Ser) variant of NR3C1 (Glucocorticoid receptor)
P46S (p.Pro46Ser) in NR3C1 (Glucocorticoid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P46S (p.Pro46Ser) variant details
- p.Pro46Ser
- TOPMed rs1421646652
- Missense
- Variant Prioritization Score for Impact Estimate 0.0782
- REVEL 0.04
- CADD 8.30
- PolyPhen-2 0.00
- SIFT 0.75
- 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 0.0294