K3N (p.Lys3Asn) variant of HCN4 (Q9Y3Q4)
K3N (p.Lys3Asn) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
K3N (p.Lys3Asn) variant details
- p.Lys3Asn
- Ensembl rs2043139851
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.39
- MetaLR 0.80
- MetaSVM 0.43
- CADD 22.50
- PolyPhen-2 0.29
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available