A188V (p.Ala188Val) variant of LRP4 (O75096)
A188V (p.Ala188Val) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A188V (p.Ala188Val) variant details
- p.Ala188Val
- rs772245536
- ClinGen CA5970448
- ClinVar RCV000503043
- ClinVar RCV001037702
- Uncertain significance
- Congenital myasthenic syndrome 17; Cenani-Lenz syndactyly syndrome; Sclerosteosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.07
- MetaLR 0.45
- MetaSVM -0.71
- PolyPhen-2 0.01
- SIFT 0.07
- 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
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)