S2T (p.Ser2Thr) variant of JPH2 (Junctophilin-2)
S2T (p.Ser2Thr) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- ExAC rs771997292
- gnomAD rs771997292
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.11
- CADD 21.00
- PolyPhen-2 0.19
- SIFT 0.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available