I177S (p.Ile177Ser) variant of PRPH2 (Peripherin-2)
I177S (p.Ile177Ser) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Vitelliform macular dystrophy 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
I177S (p.Ile177Ser) variant details
- p.Ile177Ser
- rs748478593
- ClinGen CA364137352
- ClinVar RCV003389572
- Likely pathogenic
- Vitelliform macular dystrophy 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- AlphaMissense 0.63
- MetaLR 0.54
- MetaSVM -0.01
- SIFT 0.00
- MutPred 0.67
- ClinVar: Likely pathogenic (Vitelliform macular dystrophy 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available