S42I (p.Ser42Ile) variant of SCN5A (Q14524)
S42I (p.Ser42Ile) in SCN5A (Q14524) 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 0.42 / 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 0.42
- REVEL 0.43
- CADD 14.00
- PolyPhen-2 0.20
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available