A38T (p.Ala38Thr) variant of DES (Desmin)
A38T (p.Ala38Thr) in DES (Desmin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Desmin-related myofibrillar myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- ExAC rs755197219
- gnomAD rs755197219
- Uncertain significance
- Cardiovascular phenotype; Desmin-related myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.11
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Cardiovascular phenotype; Desmin-related myofibrillar myopathy)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available