A49T (p.Ala49Thr) variant of JPH2 (Junctophilin-2)
A49T (p.Ala49Thr) 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.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- cosmic curated COSV10968
- TOPMed rs1193192844
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.11
- CADD 24.30
- PolyPhen-2 0.11
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available