A23V (p.Ala23Val) variant of HCN4 (Q9Y3Q4)
A23V (p.Ala23Val) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- ExAC rs781573072
- gnomAD rs781573072
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.39
- MetaLR 0.88
- MetaSVM 0.87
- CADD 25.00
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available