D16A (p.Asp16Ala) variant of KCNH2 (hERG)
D16A (p.Asp16Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D16A (p.Asp16Ala) variant details
- p.Asp16Ala
- rs199472825
- ClinGen CA008513
- ClinVar RCV000058236
- ClinVar RCV006547584
- Uncertain significance
- Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.78
- ESM-1b 0.00
- AlphaMissense 0.98
- MetaLR 0.94
- MetaSVM 0.98
- CADD 26.60
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Variant of uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 98.8
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence. (PMID 10086971)