V210F (p.Val210Phe) variant of DCX (O43602)
V210F (p.Val210Phe) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ectopic tissue. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
V210F (p.Val210Phe) variant details
- p.Val210Phe
- rs587783573
- ClinGen CA172038
- ClinVar RCV000145876
- Ensembl rs587783573
- Pathogenic
- Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.80
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Ectopic tissue)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available