P85L (p.Pro85Leu) variant of SCN5A (Q14524)
P85L (p.Pro85Leu) in SCN5A (Q14524) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 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 0.78
- REVEL 0.76
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-05)
- Structural context available