A84E (p.Ala84Glu) variant of HCN4 (Q9Y3Q4)
A84E (p.Ala84Glu) 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 0.36 / 1. The record also includes population frequency data and structural context.
A84E (p.Ala84Glu) variant details
- p.Ala84Glu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.29
- MetaLR 0.63
- MetaSVM -0.19
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available