T22T (p.Thr22Thr) variant of PKP1 (Plakophilin-1)
T22T (p.Thr22Thr) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T22T (p.Thr22Thr) variant details
- p.Thr22Thr
- rs528746460
- gnomAD 1-201283768-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 11.20
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available