L8P (p.Leu8Pro) variant of SCN10A (Q9Y5Y9)
L8P (p.Leu8Pro) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- gnomAD rs2064320329
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.28
- MetaLR 0.51
- MetaSVM -0.41
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available