H27Y (p.His27Tyr) variant of JUP (Junction plakoglobin)
H27Y (p.His27Tyr) in JUP (Junction plakoglobin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
H27Y (p.His27Tyr) variant details
- p.His27Tyr
- cosmic curated COSV10512
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.21
- CADD 24.90
- PolyPhen-2 0.62
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available