C15W (p.Cys15Trp) variant of JPH2 (Junctophilin-2)
C15W (p.Cys15Trp) 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 0.34 / 1. The record also includes population frequency data and structural context.
C15W (p.Cys15Trp) variant details
- p.Cys15Trp
- ExAC rs748073251
- gnomAD rs748073251
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.42
- CADD 21.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ASW population (allele frequency 0.062)
- Structural context available