M76L (p.Met76Leu) variant of JUP (Junction plakoglobin)
M76L (p.Met76Leu) in JUP (Junction plakoglobin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
M76L (p.Met76Leu) variant details
- p.Met76Leu
- ExAC rs782730235
- gnomAD rs782730235
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.12
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available