T89I (p.Thr89Ile) variant of SCN5A (Q14524)
T89I (p.Thr89Ile) 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 0.61 / 1. The record also includes population frequency data and structural context.
T89I (p.Thr89Ile) variant details
- p.Thr89Ile
- NCI-TCGA Cosmic COSV6006
- cosmic curated COSV60067
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.58
- CADD 23.30
- PolyPhen-2 0.94
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.6e-05)
- Structural context available