P153H (p.Pro153His) variant of SCN5A (Nav1.5)
P153H (p.Pro153His) in SCN5A (Nav1.5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P153H (p.Pro153His) variant details
- p.Pro153His
- cosmic curated COSV11505
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.30
- MetaLR 0.93
- MetaSVM 1.06
- CADD 27.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available