M265R (p.Met265Arg) variant of PRPH2 (Peripherin-2)
M265R (p.Met265Arg) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Patterned macular dystrophy 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
M265R (p.Met265Arg) variant details
- p.Met265Arg
- rs1582764600
- ClinGen CA364134729
- ClinVar RCV001003138
- ClinVar RCV001530384
- Likely pathogenic
- Patterned macular dystrophy 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- AlphaMissense 0.15
- MetaLR 0.20
- MetaSVM -0.77
- SIFT 0.16
- MutPred 0.47
- ClinVar: Likely pathogenic (Patterned macular dystrophy 1; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available