R5P (p.Arg5Pro) variant of SLC8A1 (Sodium/calcium exchanger 1)
R5P (p.Arg5Pro) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R5P (p.Arg5Pro) variant details
- p.Arg5Pro
- ESP rs139897746
- ExAC rs139897746
- TOPMed rs139897746
- gnomAD rs139897746
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.28
- CADD 8.94
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available