V59L (p.Val59Leu) variant of SLC8A1 (Sodium/calcium exchanger 1)
V59L (p.Val59Leu) 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 0.39 / 1. The record also includes population frequency data and structural context.
V59L (p.Val59Leu) variant details
- p.Val59Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.16
- CADD 17.80
- PolyPhen-2 0.12
- SIFT 0.58
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available