E97V (p.Glu97Val) variant of LRP4 (O75096)
E97V (p.Glu97Val) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndrome; Sclerosteosi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E97V (p.Glu97Val) variant details
- p.Glu97Val
- rs766174802
- NCI-TCGA Cosmic COSV6613
- ExAC rs766174802
- TOPMed rs766174802
- Uncertain significance
- Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndrome; Sclerosteosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- AlphaMissense 0.38
- MetaLR 0.82
- MetaSVM 0.72
- PolyPhen-2 0.98
- SIFT 0.02
- MutPred 0.54
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available