A51T (p.Ala51Thr) variant of NR3C1 (Glucocorticoid receptor)
A51T (p.Ala51Thr) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A51T (p.Ala51Thr) variant details
- p.Ala51Thr
- rs1292025233
- NCI-TCGA Cosmic COSV5154
- cosmic curated COSV51542
- gnomAD rs1292025233
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.07
- CADD 15.40
- PolyPhen-2 0.18
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.171