A149S (p.Ala149Ser) variant of SCN5A (Q14524)
A149S (p.Ala149Ser) in SCN5A (Q14524) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A149S (p.Ala149Ser) variant details
- p.Ala149Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.54
- AlphaMissense 0.12
- MetaLR 0.40
- MetaSVM -0.59
- CADD 23.60
- PolyPhen-2 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available