T48N (p.Thr48Asn) variant of PKP1 (Plakophilin-1)
T48N (p.Thr48Asn) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T48N (p.Thr48Asn) variant details
- p.Thr48Asn
- Ensembl rs1655646237
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.19
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available