K74R (p.Lys74Arg) variant of SLC8A1 (Sodium/calcium exchanger 1)
K74R (p.Lys74Arg) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
K74R (p.Lys74Arg) variant details
- p.Lys74Arg
- cosmic curated COSV10441
- TOPMed rs1317534057
- gnomAD rs1317534057
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.19
- CADD 21.00
- PolyPhen-2 0.95
- SIFT 0.71
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available