G33C (p.Gly33Cys) variant of NR2E3 (Q9Y5X4)
G33C (p.Gly33Cys) in NR2E3 (Q9Y5X4) 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 0.52 / 1. The record also includes population frequency data and structural context.
G33C (p.Gly33Cys) variant details
- p.Gly33Cys
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10048
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 24.80
- PolyPhen-2 0.89
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available