G18C (p.Gly18Cys) variant of KCNJ2 (P63252)
G18C (p.Gly18Cys) in KCNJ2 (P63252) 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 0.63 / 1. The record also includes population frequency data and structural context.
G18C (p.Gly18Cys) variant details
- p.Gly18Cys
- NCI-TCGA Cosmic COSV5466
- cosmic curated COSV54661
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.57
- MetaLR 0.48
- MetaSVM -0.22
- CADD 28.00
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available