M1L (p.Met1Leu) variant of PRPH2 (Peripherin-2)
M1L (p.Met1Leu) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of PRPH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1761921867
- ClinGen CA364138986
- ClinVar RCV001530268
- ClinVar RCV002568885
- Pathogenic
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- MetaLR 0.04
- MetaSVM -1.17
- SIFT 0.00
- MutPred 0.78
- ClinVar: Pathogenic (PRPH2-related disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available