K77R (p.Lys77Arg) variant of JPH2 (Junctophilin-2)
K77R (p.Lys77Arg) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
K77R (p.Lys77Arg) variant details
- p.Lys77Arg
- Ensembl rs775645341
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.26
- CADD 29.30
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available