T34A (p.Thr34Ala) variant of SCN10A (Q9Y5Y9)
T34A (p.Thr34Ala) in SCN10A (Q9Y5Y9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T34A (p.Thr34Ala) variant details
- p.Thr34Ala
- gnomAD rs1452309366
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.16
- MetaLR 0.47
- MetaSVM -0.37
- CADD 0.28
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available