N36T (p.Asn36Thr) variant of DSG1 (Desmoglein-1)
N36T (p.Asn36Thr) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N36T (p.Asn36Thr) variant details
- p.Asn36Thr
- TOPMed rs1482791506
- gnomAD rs1482791506
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.22
- MetaLR 0.22
- MetaSVM -0.75
- CADD 23.60
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available