D1363N (p.Asp1363Asn) variant of LRP5 (O75197)
D1363N (p.Asp1363Asn) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Exudative vitreoretinopathy 4; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
D1363N (p.Asp1363Asn) variant details
- p.Asp1363Asn
- rs756378949
- ClinGen CA6150228
- ClinVar RCV001360429
- ExAC rs756378949
- Pathogenic/Likely pathogenic
- Exudative vitreoretinopathy 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.91
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Exudative vitreoretinopathy 4; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available