M43K (p.Met43Lys) variant of JUP (Junction plakoglobin)
M43K (p.Met43Lys) in JUP (Junction plakoglobin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
M43K (p.Met43Lys) variant details
- p.Met43Lys
- TOPMed rs1916678120
- gnomAD rs1916678120
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.11
- CADD 17.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available