K22N (p.Lys22Asn) variant of HCN4 (Q9Y3Q4)
K22N (p.Lys22Asn) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
K22N (p.Lys22Asn) variant details
- p.Lys22Asn
- Ensembl rs867204798
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.40
- MetaLR 0.88
- MetaSVM 0.87
- CADD 24.70
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available