R1188W (p.Arg1188Trp) variant of LRP5 (O75197)
R1188W (p.Arg1188Trp) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R1188W (p.Arg1188Trp) variant details
- p.Arg1188Trp
- rs141178995
- ClinGen CA210907
- ClinVar RCV000149786
- ClinVar RCV000584769
- Likely pathogenic
- Bone mineral density quantitative trait locus 1; Worth disease; Exudative vitreo
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.90
- CADD 24.50
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Likely pathogenic (Bone mineral density quantitative trait locus 1; Worth disease;)
- EBI: Pathogenic (in PCLD4)
- UniProt: Pathogenic (in PCLD4)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis. (PMID 24706814)
- Cited in: Isolated polycystic liver disease genes define effectors of polycystin-1 function. (PMID 28375157)