F65V (p.Phe65Val) variant of NR3C1 (Glucocorticoid receptor)
F65V (p.Phe65Val) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Glucocorticoid resistance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F65V (p.Phe65Val) variant details
- p.Phe65Val
- rs6192
- ClinGen CA3487117
- ClinVar RCV000896237
- ClinVar RCV001152116
- Benign/Likely benign
- not provided; Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.08
- CADD 22.40
- PolyPhen-2 0.34
- SIFT 0.60
- ClinVar: Benign/Likely benign (not provided; Glucocorticoid resistance)
- EBI: Benign (in dbSNP:rs6192)
- UniProt: Benign (in dbSNP:rs6192)
- Most common in the HGDP:SAN population (allele frequency 0.25)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0905
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)