M1T (p.Met1Thr) variant of PRPH2 (Peripherin-2)
M1T (p.Met1Thr) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PRPH2-related disorder; Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs121918565
- ClinGen CA122940
- ClinVar RCV000084961
- ClinVar RCV002508120
- Pathogenic/Likely pathogenic
- PRPH2-related disorder; 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/Likely pathogenic (PRPH2-related disorder; Retinal dystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. (PMID 9338584)