A110T (p.Ala110Thr) variant of SCN5A (Nav1.5)
A110T (p.Ala110Thr) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Cardiac arrhythmia; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A110T (p.Ala110Thr) variant details
- p.Ala110Thr
- rs730880202
- ClinGen CA017010
- cosmic curated COSV60067
- ClinVar RCV000157475
- Uncertain significance
- Cardiovascular phenotype; Cardiac arrhythmia; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.46
- MetaLR 0.96
- MetaSVM 1.10
- CADD 27.20
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiac arrhythmia; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-05)
- Structural context available
- Cited in: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic… (PMID 14607462)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)