H205L (p.His205Leu) variant of DCX (O43602)
H205L (p.His205Leu) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ectopic tissue. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
H205L (p.His205Leu) variant details
- p.His205Leu
- rs587783572
- ClinGen CA172035
- ClinVar RCV000145875
- Ensembl rs587783572
- Likely pathogenic
- Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.91
- MetaLR 0.25
- MetaSVM -0.68
- SIFT 0.08
- EVE 0.47
- ClinVar: Likely pathogenic (Ectopic tissue)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available