G43E (p.Gly43Glu) variant of SLC8A1 (Sodium/calcium exchanger 1)
G43E (p.Gly43Glu) in SLC8A1 (Sodium/calcium exchanger 1) 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 0.15 / 1. The record also includes population frequency data and structural context.
G43E (p.Gly43Glu) variant details
- p.Gly43Glu
- NCI-TCGA Cosmic COSV6047
- cosmic curated COSV60477
- ExAC rs751120817
- gnomAD rs751120817
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.02
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.26
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available