S42I (p.Ser42Ile) variant of SCN5A (Nav1.5)
S42I (p.Ser42Ile) in SCN5A (Nav1.5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S42I (p.Ser42Ile) variant details
- p.Ser42Ile
- NCI-TCGA Cosmic COSV6006
- cosmic curated COSV60067
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.43
- ESM-1b 0.14
- AlphaMissense 0.10
- MetaLR 0.40
- MetaSVM -0.45
- CADD 17.26
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available