T35T (p.Thr35Thr) variant of PKP1 (Plakophilin-1)
T35T (p.Thr35Thr) 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.
T35T (p.Thr35Thr) variant details
- p.Thr35Thr
- gnomAD 1-201283807-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 11.90
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available