A55A (p.Ala55Ala) variant of DSG1 (Desmoglein-1)
A55A (p.Ala55Ala) in DSG1 (Desmoglein-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A55A (p.Ala55Ala) variant details
- p.Ala55Ala
- rs1191553339
- gnomAD 18-31326954-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.125
- CADD 6.24
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available