A71V (p.Ala71Val) variant of HCN4 (Q9Y3Q4)
A71V (p.Ala71Val) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Brugada syndrome 8. 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.
A71V (p.Ala71Val) variant details
- p.Ala71Val
- rs1451861074
- ClinGen CA393098698
- ClinVar RCV002417750
- ClinVar RCV003101072
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.24
- MetaLR 0.74
- MetaSVM 0.30
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.5e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)