P52L (p.Pro52Leu) variant of CACNA1S (Q13698)
P52L (p.Pro52Leu) in CACNA1S (Q13698) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- cosmic curated COSV62939
- gnomAD rs1272670603
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.43
- CADD 24.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available