A62P (p.Ala62Pro) variant of HCN4 (Q9Y3Q4)
A62P (p.Ala62Pro) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A62P (p.Ala62Pro) variant details
- p.Ala62Pro
- rs2151228688
- ClinGen CA393098776
- ClinVar RCV001933116
- Ensembl rs2151228688
- Uncertain significance
- Brugada syndrome 8; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.31
- MetaLR 0.75
- MetaSVM 0.19
- CADD 16.30
- PolyPhen-2 0.42
- SIFT 0.26
- ClinVar: Uncertain significance (Brugada syndrome 8; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)