R108Q (p.Arg108Gln) variant of LRP4 (O75096)
R108Q (p.Arg108Gln) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome 17; Sclerosteosi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R108Q (p.Arg108Gln) variant details
- p.Arg108Gln
- rs772332690
- ClinGen CA5970531
- ClinVar RCV001368019
- ExAC rs772332690
- Uncertain significance
- Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome 17; Sclerosteosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- AlphaMissense 0.22
- MetaLR 0.78
- MetaSVM 0.50
- PolyPhen-2 1.00
- SIFT 0.09
- ClinVar: Uncertain significance (Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)