D641V (p.Asp641Val) variant of NR3C1 (Glucocorticoid receptor)
D641V (p.Asp641Val) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glucocorticoid resistance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
D641V (p.Asp641Val) variant details
- p.Asp641Val
- rs104893908
- ClinGen CA126218
- ClinVar RCV000017529
- UniProt VAR 004676
- Pathogenic
- Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- AlphaMissense 0.28
- MetaLR 0.89
- MetaSVM 0.91
- PolyPhen-2 0.14
- SIFT 0.00
- MutPred 0.86
- ClinVar: Pathogenic (Glucocorticoid resistance)
- EBI: Pathogenic (in GCCR)
- UniProt: Pathogenic (in GCCR)
- Structural context available
- Cited in: Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in… (PMID 1704018)
- Cited in: Spontaneous hypercortisolism without Cushing's syndrome. (PMID 186477)