E77Q (p.Glu77Gln) variant of SCN10A (Q9Y5Y9)
E77Q (p.Glu77Gln) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E77Q (p.Glu77Gln) variant details
- p.Glu77Gln
- gnomAD rs1429242461
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.37
- MetaLR 0.89
- MetaSVM 0.66
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available