M17T (p.Met17Thr) variant of DSP (Desmoplakin)
M17T (p.Met17Thr) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
M17T (p.Met17Thr) variant details
- p.Met17Thr
- rs559248100
- ClinGen CA362675586
- ClinVar RCV001948519
- ClinVar RCV004010931
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic cardiomyopathy with
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.24
- MetaLR 0.14
- MetaSVM -0.77
- CADD 22.50
- PolyPhen-2 0.08
- SIFT 0.02
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 8; Arrhythmogenic car)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- 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)