E77K (p.Glu77Lys) variant of SCN10A (Q9Y5Y9)
E77K (p.Glu77Lys) 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 0.60 / 1. The record also includes population frequency data and structural context.
E77K (p.Glu77Lys) variant details
- p.Glu77Lys
- rs1429242461
- ClinGen CA352162613
- cosmic curated COSV10147
- ClinVar RCV002428463
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.48
- MetaLR 0.87
- MetaSVM 0.89
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available