V5A (p.Val5Ala) variant of SCN2A (Q99250)
V5A (p.Val5Ala) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- gnomAD 2-165295837-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.81
- MetaSVM 0.71
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 0.00046)
- Structural context available
- Literature evidence available