D424N (p.Asp424Asn) variant of LRP5 (O75197)
D424N (p.Asp424Asn) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; not provided; Exudative vitreoretinopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
D424N (p.Asp424Asn) variant details
- p.Asp424Asn
- rs761131376
- ClinGen CA6149289
- ClinVar RCV001880035
- ClinVar RCV003222284
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Exudative vitreoretinopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.95
- CADD 28.80
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Exudative vitreoretinopathy 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available