G36A (p.Gly36Ala) variant of DSP (Desmoplakin)
G36A (p.Gly36Ala) in DSP (Desmoplakin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Cardiomyopathy, d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
G36A (p.Gly36Ala) variant details
- p.Gly36Ala
- rs778506459
- ClinGen CA026931
- ClinVar RCV000486571
- ClinVar RCV001176566
- Conflicting interpretations
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Cardiomyopathy, d
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.14
- MetaLR 0.11
- MetaSVM -1.09
- CADD 17.40
- PolyPhen-2 0.30
- SIFT 0.46
- ClinVar: Conflicting classifications of pathogenicity (Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; C)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)