I27N (p.Ile27Asn) variant of DSG1 (Desmoglein-1)
I27N (p.Ile27Asn) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I27N (p.Ile27Asn) variant details
- p.Ile27Asn
- TOPMed rs2071687475
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.39
- MetaLR 0.21
- MetaSVM -0.67
- CADD 24.00
- PolyPhen-2 0.34
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available