L20F (p.Leu20Phe) variant of SLC8A1 (Sodium/calcium exchanger 1)
L20F (p.Leu20Phe) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. 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.
L20F (p.Leu20Phe) variant details
- p.Leu20Phe
- TOPMed rs989112001
- gnomAD rs989112001
- Missense
- Variant Prioritization Score for Impact Estimate 0.0868
- REVEL 0.04
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available