K18R (p.Lys18Arg) variant of CACNA1S (Q13698)
K18R (p.Lys18Arg) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
K18R (p.Lys18Arg) variant details
- p.Lys18Arg
- gnomAD rs1663155244
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.44
- CADD 24.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available