A49V (p.Ala49Val) variant of NR3C1 (Glucocorticoid receptor)
A49V (p.Ala49Val) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- cosmic curated COSV51542
- 1000Genomes rs552377230
- ExAC rs552377230
- gnomAD rs552377230
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.07
- CADD 22.10
- PolyPhen-2 0.51
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0098)
- Structural context available
- NR3C1 Zinc finger, nuclear hormone receptor-type domain domainome 1.0: score -0.0771