R5W (p.Arg5Trp) variant of SLC8A1 (Sodium/calcium exchanger 1)
R5W (p.Arg5Trp) 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.
R5W (p.Arg5Trp) variant details
- p.Arg5Trp
- cosmic curated COSV60476
- ESP rs200360506
- ExAC rs200360506
- TOPMed rs200360506
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.08
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available