W21* (p.Trp21Ter) variant of PRPH2 (Peripherin-2)
W21* (p.Trp21Ter) 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 0.85 / 1. The record also includes population frequency data and structural context.
W21* (p.Trp21Ter) variant details
- p.Trp21Ter
- rs2152011132
- ClinGen CA364138852
- ClinVar RCV001530273
- Ensembl rs2152011132
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available