E75Q (p.Glu75Gln) variant of JPH2 (Junctophilin-2)
E75Q (p.Glu75Gln) in JPH2 (Junctophilin-2) 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 0.50 / 1. The record also includes population frequency data and structural context.
E75Q (p.Glu75Gln) variant details
- p.Glu75Gln
- NCI-TCGA Cosmic COSV6069
- cosmic curated COSV60697
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.29
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available