N4N (p.Asn4Asn) variant of DSP (Desmoplakin)
N4N (p.Asn4Asn) in DSP (Desmoplakin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
N4N (p.Asn4Asn) variant details
- p.Asn4Asn
- rs368802003
- gnomAD 6-7541927-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.433
- CADD 14.10
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)