G96S (p.Gly96Ser) variant of LRP2 (P98164)
G96S (p.Gly96Ser) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
G96S (p.Gly96Ser) variant details
- p.Gly96Ser
- rs1684834732
- ClinGen CA349173526
- ClinVar RCV002705233
- Ensembl rs1684834732
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- AlphaMissense 0.11
- MetaLR 0.92
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available