M43T (p.Met43Thr) variant of JUP (Junction plakoglobin)
M43T (p.Met43Thr) in JUP (Junction plakoglobin) is a missense change. 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.
M43T (p.Met43Thr) variant details
- p.Met43Thr
- TOPMed rs1916678120
- gnomAD rs1916678120
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.08
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available