A60V (p.Ala60Val) variant of HCN4 (Q9Y3Q4)
A60V (p.Ala60Val) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A60V (p.Ala60Val) variant details
- p.Ala60Val
- rs2549080617
- ClinGen CA393098789
- ClinVar RCV003614984
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.18
- MetaLR 0.72
- MetaSVM -0.12
- CADD 6.31
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.8e-06)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)