F27L (p.Phe27Leu) variant of SLC8A1 (Sodium/calcium exchanger 1)
F27L (p.Phe27Leu) 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 0.09 / 1. The record also includes population frequency data and structural context.
F27L (p.Phe27Leu) variant details
- p.Phe27Leu
- NCI-TCGA TCGA novel
- gnomAD rs1316390677
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0927
- REVEL 0.04
- CADD 5.10
- PolyPhen-2 0.00
- SIFT 0.74
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available