I14F (p.Ile14Phe) variant of DSG1 (Desmoglein-1)
I14F (p.Ile14Phe) in DSG1 (Desmoglein-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Severe dermatitis-multiple allergies-metabolic wasting syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
I14F (p.Ile14Phe) variant details
- p.Ile14Phe
- rs141269991
- ClinGen CA8925725
- ClinVar RCV002110865
- ClinVar RCV005370167
- Benign/Likely benign
- Severe dermatitis-multiple allergies-metabolic wasting syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.12
- MetaLR 0.16
- MetaSVM -0.92
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Benign/Likely benign (Severe dermatitis-multiple allergies-metabolic wasting syndrome;)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available