V5I (p.Val5Ile) variant of MUSK (O15146)
V5I (p.Val5Ile) in MUSK (O15146) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Congenital myasthenic syndrome 9; Fetal akinesia deformation sequence 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V5I (p.Val5Ile) variant details
- p.Val5Ile
- rs765874906
- ClinGen CA5183891
- NCI-TCGA Cosmic COSV5188
- cosmic curated COSV51885
- Uncertain significance
- Congenital myasthenic syndrome 9; Fetal akinesia deformation sequence 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.04
- MetaLR 0.17
- MetaSVM -0.96
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Congenital myasthenic syndrome 9; Fetal akinesia deformation seq)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Congenital Myasthenic Syndromes Overview. (PMID 20301347)