Y63H (p.Tyr63His) variant of SCN9A (Q15858)
Y63H (p.Tyr63His) in SCN9A (Q15858) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Y63H (p.Tyr63His) variant details
- p.Tyr63His
- gnomAD rs1698959487
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- AlphaMissense 0.81
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.80
- SIFT 0.00
- EVE 0.66
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available