D27N (p.Asp27Asn) variant of HCN4 (Q9Y3Q4)
D27N (p.Asp27Asn) 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 0.52 / 1. The record also includes population frequency data and structural context.
D27N (p.Asp27Asn) variant details
- p.Asp27Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.38
- MetaLR 0.78
- MetaSVM 0.66
- CADD 23.40
- PolyPhen-2 0.36
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available