L41P (p.Leu41Pro) variant of PRPH2 (Peripherin-2)
L41P (p.Leu41Pro) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of PRPH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
L41P (p.Leu41Pro) variant details
- p.Leu41Pro
- rs2152011091
- ClinGen CA364138725
- ClinVar RCV001530292
- ClinVar RCV001882583
- Likely pathogenic
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- AlphaMissense 0.98
- MetaLR 0.67
- MetaSVM 0.38
- SIFT 0.00
- MutPred 0.85
- ClinVar: Likely pathogenic (PRPH2-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available