M26L (p.Met26Leu) variant of HCN4 (Q9Y3Q4)
M26L (p.Met26Leu) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
M26L (p.Met26Leu) variant details
- p.Met26Leu
- TOPMed rs1172106722
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.24
- MetaLR 0.80
- MetaSVM 0.50
- CADD 16.30
- PolyPhen-2 0.04
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available