T33T (p.Thr33Thr) variant of PKP1 (Plakophilin-1)
T33T (p.Thr33Thr) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
T33T (p.Thr33Thr) variant details
- p.Thr33Thr
- gnomAD 1-201283801-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.22
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available