I14T (p.Ile14Thr) variant of DSG1 (Desmoglein-1)
I14T (p.Ile14Thr) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
I14T (p.Ile14Thr) variant details
- p.Ile14Thr
- gnomAD 18-31318341-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.07
- MetaLR 0.16
- MetaSVM -0.94
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available