F116L (p.Phe116Leu) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
F116L (p.Phe116Leu) in SLC9A3 (Sodium/hydrogen exchanger 3) 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.
F116L (p.Phe116Leu) variant details
- p.Phe116Leu
- rs762737816
- ExAC rs762737816
- TOPMed rs762737816
- gnomAD rs762737816
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.23
- CADD 28.00
- PolyPhen-2 0.65
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available