T48T (p.Thr48Thr) variant of PKP1 (Plakophilin-1)
T48T (p.Thr48Thr) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
T48T (p.Thr48Thr) variant details
- p.Thr48Thr
- rs1207292943
- gnomAD 1-201283846-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.161
- CADD 11.30
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available