I11N (p.Ile11Asn) variant of DSP (Desmoplakin)
I11N (p.Ile11Asn) in DSP (Desmoplakin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I11N (p.Ile11Asn) variant details
- p.Ile11Asn
- gnomAD 6-7541947-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.23
- CADD 27.40
- PolyPhen-2 0.46
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available