V22A (p.Val22Ala) variant of SCN1B (Q07699)
V22A (p.Val22Ala) in SCN1B (Q07699) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
V22A (p.Val22Ala) variant details
- p.Val22Ala
- gnomAD 19-35032552-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.46
- ESM-1b 0.63
- AlphaMissense 0.80
- MetaLR 0.91
- MetaSVM 1.00
- CADD 24.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available