P36T (p.Pro36Thr) variant of DES (Desmin)
P36T (p.Pro36Thr) in DES (Desmin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P36T (p.Pro36Thr) variant details
- p.Pro36Thr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.40
- CADD 17.40
- PolyPhen-2 0.10
- SIFT 0.42
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available