T34K (p.Thr34Lys) variant of SCN10A (Q9Y5Y9)
T34K (p.Thr34Lys) 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 0.25 / 1. The record also includes population frequency data and structural context.
T34K (p.Thr34Lys) variant details
- p.Thr34Lys
- TOPMed rs1025338659
- gnomAD rs1025338659
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.20
- MetaLR 0.40
- MetaSVM -0.23
- CADD 0.96
- PolyPhen-2 0.00
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available