D62G (p.Asp62Gly) variant of DCX (O43602)
D62G (p.Asp62Gly) in DCX (O43602) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in LISX1 and SBHX. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
D62G (p.Asp62Gly) variant details
- p.Asp62Gly
- rs587783528
- ClinGen CA171872
- ClinVar RCV000145816
- Ensembl rs587783528
- Likely pathogenic
- in LISX1 and SBHX
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- AlphaMissense 1.00
- MetaLR 0.63
- MetaSVM 0.57
- SIFT 0.00
- EVE 0.94
- EBI: Likely pathogenic (in LISX1 and SBHX)
- UniProt: Likely pathogenic (in LISX1 and SBHX)
- Structural context available