M1R (p.Met1Arg) variant of PRPH2 (Peripherin-2)
M1R (p.Met1Arg) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pigmentary retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs121918565
- ClinGen CA364138984
- ClinVar RCV002250267
- Pathogenic
- Pigmentary retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- MetaLR 0.04
- MetaSVM -1.17
- SIFT 0.00
- MutPred 0.81
- ClinVar: Pathogenic (Pigmentary retinal dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available