L177V (p.Leu177Val) variant of SCN5A (Q14524)
L177V (p.Leu177Val) 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 0.64 / 1. The record also includes population frequency data and structural context.
L177V (p.Leu177Val) variant details
- p.Leu177Val
- rs2471839004
- ClinGen CA352153854
- ClinVar RCV004014744
- Uncertain significance
- Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.73
- CADD 19.50
- PolyPhen-2 1.00
- SIFT 0.13
- ClinVar: Uncertain significance (Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available