G169S (p.Gly169Ser) variant of LRP4 (O75096)
G169S (p.Gly169Ser) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sclerosteosis 2; Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G169S (p.Gly169Ser) variant details
- p.Gly169Ser
- rs201585639
- ClinGen CA5970480
- ClinVar RCV000643977
- ClinVar RCV004737923
- Uncertain significance
- Sclerosteosis 2; Cenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- AlphaMissense 0.19
- MetaLR 0.92
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.44
- ClinVar: Uncertain significance (Sclerosteosis 2; Cenani-Lenz syndactyly syndrome; Congenital mya)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)