T88A (p.Thr88Ala) variant of SCN10A (Nav1.8)
T88A (p.Thr88Ala) in SCN10A (Nav1.8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T88A (p.Thr88Ala) variant details
- p.Thr88Ala
- TOPMed rs1274546439
- gnomAD rs1274546439
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.18
- MetaLR 0.73
- MetaSVM 0.03
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available