S22I (p.Ser22Ile) variant of LRP4 (O75096)
S22I (p.Ser22Ile) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S22I (p.Ser22Ile) variant details
- p.Ser22Ile
- rs777229906
- ClinGen CA5970611
- ClinVar RCV000824197
- ExAC rs777229906
- Uncertain significance
- Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- AlphaMissense 0.11
- MetaLR 0.44
- MetaSVM -0.50
- PolyPhen-2 0.00
- SIFT 0.13
- MutPred 0.50
- 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)