D16Y (p.Asp16Tyr) variant of HCN1 (O60741)
D16Y (p.Asp16Tyr) in HCN1 (O60741) 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 0.48 / 1. The record also includes population frequency data and structural context.
D16Y (p.Asp16Tyr) variant details
- p.Asp16Tyr
- gnomAD rs1283834151
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.37
- AlphaMissense 0.07
- MetaLR 0.65
- MetaSVM -0.17
- CADD 23.60
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available