A82V (p.Ala82Val) variant of JUP (Junction plakoglobin)
A82V (p.Ala82Val) in JUP (Junction plakoglobin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A82V (p.Ala82Val) variant details
- p.Ala82Val
- cosmic curated COSV10812
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.26
- CADD 29.00
- PolyPhen-2 0.59
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available