Y91H (p.Tyr91His) variant of PRPH2 (Peripherin-2)
Y91H (p.Tyr91His) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of PRPH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
Y91H (p.Tyr91His) variant details
- p.Tyr91His
- rs747893076
- ClinGen CA364138062
- ClinVar RCV001530217
- ClinVar RCV005094726
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- AlphaMissense 0.48
- MetaLR 0.02
- MetaSVM -1.17
- SIFT 0.01
- MutPred 0.74
- ClinVar: Uncertain significance (PRPH2-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available