A23S (p.Ala23Ser) variant of HCN4 (Q9Y3Q4)
A23S (p.Ala23Ser) 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 0.58 / 1. The record also includes population frequency data and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- Ensembl rs868045953
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.42
- MetaLR 0.86
- MetaSVM 0.92
- CADD 22.90
- PolyPhen-2 0.26
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available