P24L (p.Pro24Leu) variant of DSP (Desmoplakin)
P24L (p.Pro24Leu) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- rs978383808
- ClinGen CA133980110
- ClinVar RCV001337804
- ClinVar RCV004005148
- Uncertain significance
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic ri
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.23
- MetaLR 0.26
- MetaSVM -0.41
- CADD 23.60
- PolyPhen-2 0.06
- SIFT 0.04
- ClinVar: Uncertain significance (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)