H8L (p.His8Leu) variant of DSP (Desmoplakin)
H8L (p.His8Leu) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Arrhythmogenic cardiomyopathy with wooly hair and kera. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
H8L (p.His8Leu) variant details
- p.His8Leu
- rs2533800283
- ClinGen CA362675482
- ClinVar RCV004014262
- ClinVar RCV005555103
- Uncertain significance
- Cardiovascular phenotype; Arrhythmogenic cardiomyopathy with wooly hair and kera
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.46
- MetaLR 0.30
- MetaSVM -0.36
- CADD 25.70
- PolyPhen-2 0.84
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype; Arrhythmogenic cardiomyopathy with woo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available