V19M (p.Val19Met) variant of HCN4 (Q9Y3Q4)
V19M (p.Val19Met) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
V19M (p.Val19Met) variant details
- p.Val19Met
- Ensembl rs915677456
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.39
- MetaLR 0.78
- MetaSVM 0.45
- CADD 23.20
- PolyPhen-2 0.29
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available