D38Y (p.Asp38Tyr) variant of MUSK (O15146)
D38Y (p.Asp38Tyr) in MUSK (O15146) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fetal akinesia deformation sequence 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
D38Y (p.Asp38Tyr) variant details
- p.Asp38Tyr
- rs1412657094
- ClinGen CA374669811
- ClinVar RCV002269798
- gnomAD rs1412657094
- Likely pathogenic
- Fetal akinesia deformation sequence 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.66
- MetaLR 0.34
- MetaSVM -0.28
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Fetal akinesia deformation sequence 1)
- EBI: Likely pathogenic (in CMS9)
- UniProt: Likely pathogenic (in CMS9)
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available