R29Q (p.Arg29Gln) variant of LRP4 (O75096)
R29Q (p.Arg29Gln) 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; Sclerosteosis 2; Congenital myasthenic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R29Q (p.Arg29Gln) variant details
- p.Arg29Gln
- rs752084061
- ClinGen CA5970606
- NCI-TCGA Cosmic COSV1010
- ClinVar RCV003091977
- Uncertain significance
- Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- AlphaMissense 0.07
- MetaLR 0.66
- MetaSVM 0.31
- PolyPhen-2 0.80
- SIFT 0.61
- MutPred 0.45
- ClinVar: Uncertain significance (Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital mya)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)