Q9E (p.Gln9Glu) variant of DES (Desmin)
Q9E (p.Gln9Glu) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
Q9E (p.Gln9Glu) variant details
- p.Gln9Glu
- rs886044488
- ClinGen CA10606821
- ClinVar RCV000334577
- Ensembl rs886044488
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- AlphaMissense 0.14
- MetaLR 0.34
- MetaSVM -0.53
- PolyPhen-2 0.62
- SIFT 0.10
- MutPred 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available