P85L (p.Pro85Leu) variant of SCN5A (Nav1.5)
P85L (p.Pro85Leu) in SCN5A (Nav1.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P85L (p.Pro85Leu) variant details
- p.Pro85Leu
- cosmic curated COSV60068
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.95
- MetaSVM 1.09
- CADD 27.50
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-05)
- Structural context available