A75E (p.Ala75Glu) variant of HCN4 (Q9Y3Q4)
A75E (p.Ala75Glu) in HCN4 (Q9Y3Q4) 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 0.25 / 1. The record also includes population frequency data and structural context.
A75E (p.Ala75Glu) variant details
- p.Ala75Glu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.17
- MetaLR 0.68
- MetaSVM -0.20
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.58
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available