K57R (p.Lys57Arg) variant of SLC8A1 (Sodium/calcium exchanger 1)
K57R (p.Lys57Arg) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
K57R (p.Lys57Arg) variant details
- p.Lys57Arg
- 1000Genomes rs200355004
- ExAC rs200355004
- gnomAD rs200355004
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.03
- CADD 17.30
- PolyPhen-2 0.95
- SIFT 0.28
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available