W25* (p.Trp25Ter) variant of PRPH2 (Peripherin-2)
W25* (p.Trp25Ter) in PRPH2 (Peripherin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
W25* (p.Trp25Ter) variant details
- p.Trp25Ter
- 1000Genomes rs146686238
- ESP rs146686238
- ExAC rs146686238
- TOPMed rs146686238
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.855
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available