A9V (p.Ala9Val) variant of KCNH2 (hERG)
A9V (p.Ala9Val) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- rs775317201
- ClinGen CA007185
- ClinVar RCV000181953
- ClinVar RCV000469823
- Uncertain significance
- Cardiac arrhythmia; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.72
- CADD 26.50
- PolyPhen-2 0.52
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiac arrhythmia; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 161
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)