V97M (p.Val97Met) variant of NR3C1 (Glucocorticoid receptor)
V97M (p.Val97Met) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glucocorticoid resistance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1.
V97M (p.Val97Met) variant details
- p.Val97Met
- rs886060062
- ClinGen CA10623094
- ClinVar RCV000260278
- Ensembl rs886060062
- Uncertain significance
- Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- AlphaMissense 0.15
- MetaLR 0.20
- MetaSVM -0.83
- PolyPhen-2 1.00
- SIFT 0.06
- MutPred 0.73
- ClinVar: Uncertain significance (Glucocorticoid resistance)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance