C3W (p.Cys3Trp) variant of DSP (Desmoplakin)
C3W (p.Cys3Trp) in DSP (Desmoplakin) 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 0.35 / 1. The record also includes population frequency data and structural context.
C3W (p.Cys3Trp) variant details
- p.Cys3Trp
- rs769032973
- ClinGen CA362675421
- ClinVar RCV001768775
- ExAC rs769032973
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.23
- MetaLR 0.15
- MetaSVM -0.85
- CADD 24.60
- PolyPhen-2 0.19
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available