V13M (p.Val13Met) variant of JUP (Junction plakoglobin)
V13M (p.Val13Met) in JUP (Junction plakoglobin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V13M (p.Val13Met) variant details
- p.Val13Met
- Ensembl rs2143738042
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.14
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available