M4I (p.Met4Ile) variant of JUP (Junction plakoglobin)
M4I (p.Met4Ile) in JUP (Junction plakoglobin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
M4I (p.Met4Ile) variant details
- p.Met4Ile
- rs782032550
- ExAC rs782032550
- gnomAD rs782032550
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.06
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available