S88I (p.Ser88Ile) variant of SCN5A (Q14524)
S88I (p.Ser88Ile) 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 0.62 / 1. The record also includes population frequency data and structural context.
S88I (p.Ser88Ile) variant details
- p.Ser88Ile
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10002
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.65
- CADD 21.90
- PolyPhen-2 0.92
- SIFT 0.26
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available