S59L (p.Ser59Leu) variant of HCN4 (Q9Y3Q4)
S59L (p.Ser59Leu) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S59L (p.Ser59Leu) variant details
- p.Ser59Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.31
- MetaLR 0.64
- MetaSVM -0.16
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.07
- UniProt: Variant assessed as somatic; high impact.
- Population evidence available
- Structural context available