N12N (p.Asn12Asn) variant of DSP (Desmoplakin)
N12N (p.Asn12Asn) in DSP (Desmoplakin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
N12N (p.Asn12Asn) variant details
- p.Asn12Asn
- rs886061744
- gnomAD 6-7541951-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 14.60
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available