D67V (p.Asp67Val) variant of SCN1A (P35498)
D67V (p.Asp67Val) 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 0.79 / 1. The record also includes structural context.
D67V (p.Asp67Val) variant details
- p.Asp67Val
- rs2105982601
- ClinGen CA349242835
- ClinVar RCV001755096
- Ensembl rs2105982601
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- AlphaMissense 0.76
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 0.74
- SIFT 0.00
- EVE 0.43
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available