V19A (p.Val19Ala) variant of HCN4 (Q9Y3Q4)
V19A (p.Val19Ala) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V19A (p.Val19Ala) variant details
- p.Val19Ala
- gnomAD rs1358888636
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.37
- MetaLR 0.81
- MetaSVM 0.51
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available