V29V (p.Val29Val) variant of DSG1 (Desmoglein-1)
V29V (p.Val29Val) in DSG1 (Desmoglein-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
V29V (p.Val29Val) variant details
- p.Val29Val
- rs1250908280
- gnomAD 18-31326876-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.153
- CADD 10.20
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available