P65L (p.Pro65Leu) variant of SCN5A (Nav1.5)
P65L (p.Pro65Leu) in SCN5A (Nav1.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
P65L (p.Pro65Leu) variant details
- p.Pro65Leu
- cosmic curated COSV60068
- 1000Genomes rs566155914
- ExAC rs566155914
- gnomAD rs566155914
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.85
- ESM-1b 0.99
- AlphaMissense 0.53
- MetaLR 0.98
- MetaSVM 1.03
- CADD 24.70
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available