K86N (p.Lys86Asn) variant of HCN4 (Q9Y3Q4)
K86N (p.Lys86Asn) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
K86N (p.Lys86Asn) variant details
- p.Lys86Asn
- TOPMed rs1019029244
- gnomAD rs1019029244
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.24
- MetaLR 0.80
- MetaSVM 0.29
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available