T109N (p.Thr109Asn) variant of JPH2 (Junctophilin-2)
T109N (p.Thr109Asn) in JPH2 (Junctophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
T109N (p.Thr109Asn) variant details
- p.Thr109Asn
- gnomAD rs1250442339
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.40
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available