L136V (p.Leu136Val) variant of SCN5A (Nav1.5)
L136V (p.Leu136Val) in SCN5A (Nav1.5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in BRGDA1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
L136V (p.Leu136Val) variant details
- p.Leu136Val
- cosmic curated COSV61129
- Uncertain significance
- in BRGDA1
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.11
- EBI: uncertain significance (in BRGDA1)
- UniProt: Uncertain significance (in BRGDA1)
- Structural context available