H88Q (p.His88Gln) variant of JPH2 (Junctophilin-2)
H88Q (p.His88Gln) in JPH2 (Junctophilin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
H88Q (p.His88Gln) variant details
- p.His88Gln
- ExAC rs769714877
- gnomAD rs769714877
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.21
- CADD 22.30
- PolyPhen-2 0.29
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available