S36L (p.Ser36Leu) variant of SCN5A (Nav1.5)
S36L (p.Ser36Leu) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S36L (p.Ser36Leu) variant details
- p.Ser36Leu
- rs2062566963
- ClinGen CA352158859
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10002
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.27
- MetaSVM -0.75
- CADD 15.88
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available