D862V (p.Asp862Val) variant of LRP5 (O75197)
D862V (p.Asp862Val) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Exudative vitreoretinopathy 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
D862V (p.Asp862Val) variant details
- p.Asp862Val
- rs2098660903
- ClinGen CA381618401
- ClinVar RCV001270176
- Ensembl rs2098660903
- Likely pathogenic
- Exudative vitreoretinopathy 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Likely pathogenic (Exudative vitreoretinopathy 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available