S76* (p.Ser76Ter) variant of PRPH2 (Peripherin-2)
S76* (p.Ser76Ter) 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 0.68 / 1. The record also includes population frequency data and structural context.
S76* (p.Ser76Ter) variant details
- p.Ser76Ter
- rs1203908646
- ClinGen CA364138254
- ClinVar RCV000987698
- ClinVar RCV002550603
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.68
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available