D2V (p.Asp2Val) variant of HCN4 (Q9Y3Q4)
D2V (p.Asp2Val) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
D2V (p.Asp2Val) variant details
- p.Asp2Val
- gnomAD rs2043139906
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.62
- MetaLR 0.91
- MetaSVM 0.88
- CADD 26.00
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available