K86Q (p.Lys86Gln) variant of HCN4 (Q9Y3Q4)
K86Q (p.Lys86Gln) 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.
K86Q (p.Lys86Gln) variant details
- p.Lys86Gln
- gnomAD rs1472909888
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.33
- MetaLR 0.83
- MetaSVM 0.61
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the East Asian population (allele frequency 3.6e-05)
- Structural context available