T228I (p.Thr228Ile) variant of PRPH2 (Peripherin-2)
T228I (p.Thr228Ile) 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; Stargardt disease; Patterned dystrophy of the retinal pi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
T228I (p.Thr228Ile) variant details
- p.Thr228Ile
- rs369507460
- ClinGen CA3808552
- ClinVar RCV001051591
- ClinVar RCV001250315
- Likely pathogenic
- PRPH2-related disorder; Stargardt disease; Patterned dystrophy of the retinal pi
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.77
- CADD 25.20
- PolyPhen-2 0.28
- SIFT 0.01
- ClinVar: Likely pathogenic (PRPH2-related disorder; Stargardt disease; Patterned dystrophy o)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available