L63V (p.Leu63Val) variant of SCN10A (Q9Y5Y9)
L63V (p.Leu63Val) in SCN10A (Q9Y5Y9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L63V (p.Leu63Val) variant details
- p.Leu63Val
- gnomAD rs2064316629
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.60
- MetaLR 0.91
- MetaSVM 1.14
- CADD 22.10
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available