C83F (p.Cys83Phe) variant of LRP4 (O75096)
C83F (p.Cys83Phe) 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 0.97 / 1. The record also includes structural context.
C83F (p.Cys83Phe) variant details
- p.Cys83Phe
- rs1565801283
- ClinGen CA380290366
- ClinVar RCV000722908
- Ensembl rs1565801283
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.94
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available