G38* (p.Gly38Ter) variant of PRPH2 (Peripherin-2)
G38* (p.Gly38Ter) in PRPH2 (Peripherin-2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
G38* (p.Gly38Ter) variant details
- p.Gly38Ter
- rs1761918414
- ClinGen CA364138745
- ClinVar RCV001530290
- Ensembl rs1761918414
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.75
- SIFT 0.00
- MutPred 0.91
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available