F13L (p.Phe13Leu) variant of SLC8A1 (Sodium/calcium exchanger 1)
F13L (p.Phe13Leu) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
F13L (p.Phe13Leu) variant details
- p.Phe13Leu
- gnomAD rs1421364412
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.05
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available