M1N (p.Met1Asn) variant of DSP (Desmoplakin)
For M1N (p.Met1Asn) in DSP (Desmoplakin), CATVariant brings together the available evidence for this variant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
M1N (p.Met1Asn) variant details
- p.Met1Asn
- rs17133512
- gnomAD 6-7541915-C-CA
- 5 Prime Utr Variant
- Variant Prioritization Score for Impact Estimate 0.487
- CADD 21.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)