G876S (p.Gly876Ser) variant of LRP5 (O75197)
G876S (p.Gly876Ser) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polycystic liver disease 4 with or without kidney cysts; Exudative vitreoretinop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
G876S (p.Gly876Ser) variant details
- p.Gly876Ser
- gnomAD rs1473893176
- Likely pathogenic
- Polycystic liver disease 4 with or without kidney cysts; Exudative vitreoretinop
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.88
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Polycystic liver disease 4 with or without kidney cysts; Exudati)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available