P78T (p.Pro78Thr) variant of SCN10A (Q9Y5Y9)
P78T (p.Pro78Thr) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
P78T (p.Pro78Thr) variant details
- p.Pro78Thr
- ExAC rs753292241
- TOPMed rs753292241
- gnomAD rs753292241
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.87
- MetaLR 0.97
- MetaSVM 1.09
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available