K60Q (p.Lys60Gln) variant of HCN1 (O60741)
K60Q (p.Lys60Gln) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
K60Q (p.Lys60Gln) variant details
- p.Lys60Gln
- 1000Genomes rs2112109404
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.36
- AlphaMissense 0.17
- MetaLR 0.75
- MetaSVM 0.09
- CADD 21.10
- PolyPhen-2 0.00
- Most common in the 1KG:ITU population (allele frequency 0.0054)
- Structural context available