G46S (p.Gly46Ser) variant of KCNJ5 (P48544)
G46S (p.Gly46Ser) in KCNJ5 (P48544) 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 0.38 / 1. The record also includes population frequency data and structural context.
G46S (p.Gly46Ser) variant details
- p.Gly46Ser
- rs1430519737
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10061
- gnomAD rs1430519737
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.23
- MetaLR 0.43
- MetaSVM -0.68
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.58
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available