D42N (p.Asp42Asn) variant of HCN4 (Q9Y3Q4)
D42N (p.Asp42Asn) 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 0.56 / 1. The record also includes population frequency data and structural context.
D42N (p.Asp42Asn) variant details
- p.Asp42Asn
- ExAC rs752597565
- TOPMed rs752597565
- gnomAD rs752597565
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.34
- MetaLR 0.94
- MetaSVM 1.02
- CADD 24.20
- PolyPhen-2 0.88
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 6.5e-05)
- Structural context available