M11V (p.Met11Val) variant of DSG1 (Desmoglein-1)
M11V (p.Met11Val) in DSG1 (Desmoglein-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; Severe dermatitis-multiple allergies-metabolic wasting syndrome; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
M11V (p.Met11Val) variant details
- p.Met11Val
- rs1426310
- ClinGen CA8925724
- ClinVar RCV000455447
- ClinVar RCV001520702
- Benign
- not provided; Severe dermatitis-multiple allergies-metabolic wasting syndrome; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.07
- MetaLR 0.00
- MetaSVM -0.92
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (not provided; Severe dermatitis-multiple allergies-metabolic was)
- EBI: Benign (in dbSNP:rs1426310)
- UniProt: Benign (in dbSNP:rs1426310)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Desmosomal glycoprotein DGI, a component of intercellular desmosome junctions, is related to the cadherin family of… (PMID 1711210)
- Cited in: Structural analysis and expression of human desmoglein: a cadherin-like component of the desmosome. (PMID 1770008)