A107V (p.Ala107Val) variant of SCN1A (P35498)
A107V (p.Ala107Val) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
A107V (p.Ala107Val) variant details
- p.Ala107Val
- rs1559254819
- ClinGen CA349077069
- ClinVar RCV000762057
- Ensembl rs1559254819
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- AlphaMissense 0.93
- MetaLR 0.96
- MetaSVM 1.13
- PolyPhen-2 0.32
- SIFT 0.00
- EVE 0.74
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available