R5L (p.Arg5Leu) variant of SLC8A1 (Sodium/calcium exchanger 1)
R5L (p.Arg5Leu) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- ESP rs139897746
- ExAC rs139897746
- TOPMed rs139897746
- gnomAD rs139897746
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.11
- CADD 7.66
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available