L55F (p.Leu55Phe) variant of JUP (Junction plakoglobin)
L55F (p.Leu55Phe) 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 0.33 / 1. The record also includes population frequency data and structural context.
L55F (p.Leu55Phe) variant details
- p.Leu55Phe
- rs1555606954
- gnomAD rs1555606954
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.07
- CADD 11.20
- PolyPhen-2 0.03
- SIFT 0.77
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available