D42A (p.Asp42Ala) variant of HCN4 (Q9Y3Q4)
D42A (p.Asp42Ala) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D42A (p.Asp42Ala) variant details
- p.Asp42Ala
- ExAC rs765179741
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.53
- MetaLR 0.89
- MetaSVM 0.88
- CADD 23.10
- PolyPhen-2 0.11
- SIFT 0.01
- Population evidence available
- Structural context available