S177Y (p.Ser177Tyr) variant of LRP4 (O75096)
S177Y (p.Ser177Tyr) in LRP4 (O75096) 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 0.92 / 1. The record also includes population frequency data and structural context.
S177Y (p.Ser177Tyr) variant details
- p.Ser177Tyr
- rs1565800416
- ClinGen CA380289471
- ClinVar RCV000723205
- Ensembl rs1565800416
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 0.76
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.79
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available