P9S (p.Pro9Ser) variant of NR3C1 (Glucocorticoid receptor)
P9S (p.Pro9Ser) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- 1000Genomes rs61759024
- ESP rs61759024
- ExAC rs61759024
- TOPMed rs61759024
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.071
- REVEL 0.08
- CADD 0.09
- PolyPhen-2 0.01
- SIFT 0.52
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.105