L88Q (p.Leu88Gln) variant of NR3C1 (Glucocorticoid receptor)
L88Q (p.Leu88Gln) in NR3C1 (Glucocorticoid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
L88Q (p.Leu88Gln) variant details
- p.Leu88Gln
- rs2480138329
- ClinGen CA361866955
- ClinVar RCV003667965
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.43
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)