A21V (p.Ala21Val) variant of HCN4 (Q9Y3Q4)
A21V (p.Ala21Val) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs867522153
- ClinGen CA393099155
- ClinVar RCV003384163
- ClinVar RCV005104261
- Uncertain significance
- Brugada syndrome 8; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.29
- MetaLR 0.72
- MetaSVM 0.03
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Brugada syndrome 8; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)