A21D (p.Ala21Asp) variant of HCN4 (Q9Y3Q4)
A21D (p.Ala21Asp) 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 0.38 / 1. The record also includes population frequency data and structural context.
A21D (p.Ala21Asp) variant details
- p.Ala21Asp
- Ensembl rs867522153
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.22
- MetaLR 0.72
- MetaSVM -0.00
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available