L53P (p.Leu53Pro) variant of HCN4 (Q9Y3Q4)
L53P (p.Leu53Pro) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L53P (p.Leu53Pro) variant details
- p.Leu53Pro
- gnomAD rs1193737227
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.57
- MetaLR 0.92
- MetaSVM 0.94
- CADD 25.10
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00022)
- Structural context available