N4K (p.Asn4Lys) variant of DSP (Desmoplakin)
N4K (p.Asn4Lys) in DSP (Desmoplakin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N4K (p.Asn4Lys) variant details
- p.Asn4Lys
- rs368802003
- ClinGen CA004879
- ClinVar RCV000037991
- ClinVar RCV000233869
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.11
- MetaLR 0.11
- MetaSVM -0.91
- CADD 23.00
- PolyPhen-2 0.24
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- 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)