L98M (p.Leu98Met) variant of PRPH2 (Peripherin-2)
L98M (p.Leu98Met) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PRPH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes structural context.
L98M (p.Leu98Met) variant details
- p.Leu98Met
- rs1417128552
- ClinGen CA364137981
- ClinVar RCV001880906
- gnomAD rs1417128552
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- AlphaMissense 0.15
- MetaLR 0.60
- MetaSVM 0.27
- SIFT 0.02
- MutPred 0.75
- ClinVar: Uncertain significance (PRPH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available