A73V (p.Ala73Val) variant of NR3C1 (Glucocorticoid receptor)
A73V (p.Ala73Val) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A73V (p.Ala73Val) variant details
- p.Ala73Val
- rs376527205
- cosmic curated COSV51542
- ESP rs376527205
- ExAC rs376527205
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0396
- REVEL 0.01
- CADD 0.19
- PolyPhen-2 0.00
- SIFT 0.77
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0624