M11T (p.Met11Thr) variant of DSG1 (Desmoglein-1)
M11T (p.Met11Thr) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
M11T (p.Met11Thr) variant details
- p.Met11Thr
- gnomAD 18-31318332-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.05
- MetaLR 0.07
- MetaSVM -1.10
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available