G39D (p.Gly39Asp) variant of DES (Desmin)
G39D (p.Gly39Asp) in DES (Desmin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Desmin-related myofibrillar myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G39D (p.Gly39Asp) variant details
- p.Gly39Asp
- ExAC rs781231410
- TOPMed rs781231410
- gnomAD rs781231410
- Uncertain significance
- Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.51
- CADD 22.60
- PolyPhen-2 0.17
- SIFT 0.09
- ClinVar: Uncertain significance (Desmin-related myofibrillar myopathy)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available