R16H (p.Arg16His) variant of DES (Desmin)
R16H (p.Arg16His) in DES (Desmin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in MFM1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
R16H (p.Arg16His) variant details
- p.Arg16His
- NCI-TCGA Cosmic COSV6466
- Variant assessed as somatic; moderate impact.
- in MFM1
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact. (in MFM1)
- Population evidence available
- Structural context available