L72V (p.Leu72Val) variant of HCN4 (Q9Y3Q4)
L72V (p.Leu72Val) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L72V (p.Leu72Val) variant details
- p.Leu72Val
- rs2043137832
- ClinGen CA393098695
- ClinVar RCV003506401
- 1000Genomes rs2043137832
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.20
- MetaLR 0.75
- MetaSVM -0.08
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)