A62V (p.Ala62Val) variant of HCN4 (Q9Y3Q4)
A62V (p.Ala62Val) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A62V (p.Ala62Val) variant details
- p.Ala62Val
- rs1595837637
- ClinGen CA393098770
- ClinVar RCV000804698
- Ensembl rs1595837637
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.24
- MetaLR 0.67
- MetaSVM 0.00
- CADD 16.10
- PolyPhen-2 0.04
- SIFT 0.25
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)