S114L (p.Ser114Leu) variant of NR3C1 (Glucocorticoid receptor)
S114L (p.Ser114Leu) 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 0.35 / 1. The record also includes population frequency data.
S114L (p.Ser114Leu) variant details
- p.Ser114Leu
- rs756635644
- NCI-TCGA Cosmic COSV9919
- cosmic curated COSV99196
- ExAC rs756635644
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- AlphaMissense 0.07
- MetaLR 0.15
- MetaSVM -0.95
- PolyPhen-2 1.00
- SIFT 0.27
- MutPred 0.46
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available