V729A (p.Val729Ala) variant of NR3C1 (Glucocorticoid receptor)
V729A (p.Val729Ala) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glucocorticoid resistance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
V729A (p.Val729Ala) variant details
- p.Val729Ala
- gnomAD rs1353048513
- Likely pathogenic
- Glucocorticoid resistance
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.74
- MetaLR 0.86
- MetaSVM 0.76
- CADD 22.40
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Likely pathogenic (Glucocorticoid resistance)
- EBI: Likely pathogenic (in GCCR)
- UniProt: Likely pathogenic (in GCCR)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available