R229W (p.Arg229Trp) variant of LRP5 (O75197)
R229W (p.Arg229Trp) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bone mineral density quantitative trait locus 1; Worth disease; Exudative vitreo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R229W (p.Arg229Trp) variant details
- p.Arg229Trp
- rs766589610
- ClinGen CA235841
- NCI-TCGA Cosmic COSV5371
- ClinVar RCV000171198
- Pathogenic/Likely pathogenic
- Bone mineral density quantitative trait locus 1; Worth disease; Exudative vitreo
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.85
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bone mineral density quantitative trait locus 1; Worth disease;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available