W94* (p.Trp94Ter) variant of PRPH2 (Peripherin-2)
W94* (p.Trp94Ter) in PRPH2 (Peripherin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
W94* (p.Trp94Ter) variant details
- p.Trp94Ter
- rs2152011008
- ClinGen CA364138041
- ClinVar RCV001530219
- ClinVar RCV004815550
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.858
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available