G29S (p.Gly29Ser) variant of JUP (Junction plakoglobin)
G29S (p.Gly29Ser) 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 0.56 / 1. The record also includes population frequency data and structural context.
G29S (p.Gly29Ser) variant details
- p.Gly29Ser
- rs782501542
- NCI-TCGA Cosmic COSV6027
- cosmic curated COSV60279
- ExAC rs782501542
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.41
- CADD 24.00
- PolyPhen-2 0.72
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available