L83V (p.Leu83Val) variant of SCN5A (Q14524)
L83V (p.Leu83Val) in SCN5A (Q14524) 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 0.47 / 1. The record also includes population frequency data and structural context.
L83V (p.Leu83Val) variant details
- p.Leu83Val
- rs2471904289
- ClinGen CA352157895
- ClinVar RCV004012332
- Uncertain significance
- Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.51
- CADD 23.30
- PolyPhen-2 0.41
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available