Q67K (p.Gln67Lys) variant of SLC8A1 (Sodium/calcium exchanger 1)
Q67K (p.Gln67Lys) in SLC8A1 (Sodium/calcium exchanger 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q67K (p.Gln67Lys) variant details
- p.Gln67Lys
- gnomAD rs1697900280
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.09
- CADD 17.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available