N198S (p.Asn198Ser) variant of LRP5 (O75197)
N198S (p.Asn198Ser) 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; Exudative vitreoretinopathy 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
N198S (p.Asn198Ser) variant details
- p.Asn198Ser
- rs1085307078
- ClinGen CA381611849
- ClinVar RCV000490446
- ClinVar RCV001853389
- Pathogenic/Likely pathogenic
- Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- MutPred 0.89
- ClinVar: Pathogenic/Likely pathogenic (Bone mineral density quantitative trait locus 1; Exudative vitre)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available