P52L (p.Pro52Leu) variant of HCN4 (Q9Y3Q4)
P52L (p.Pro52Leu) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- Ensembl rs1297165703
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.49
- MetaLR 0.81
- MetaSVM 0.77
- CADD 22.60
- PolyPhen-2 0.22
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available