T143N (p.Thr143Asn) variant of SCN5A (Q14524)
T143N (p.Thr143Asn) 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 0.85 / 1. The record also includes population frequency data and structural context.
T143N (p.Thr143Asn) variant details
- p.Thr143Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.89
- CADD 26.60
- PolyPhen-2 0.94
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available