C1305R (p.Cys1305Arg) variant of LRP5 (O75197)
C1305R (p.Cys1305Arg) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Exudative vitreoretinopathy 4; Worth disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
C1305R (p.Cys1305Arg) variant details
- p.Cys1305Arg
- rs1197169952
- ClinGen CA381613889
- ClinVar RCV001901556
- ClinVar RCV005397138
- Uncertain significance
- not provided; Exudative vitreoretinopathy 4; Worth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.99
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Exudative vitreoretinopathy 4; Worth disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available