Y91N (p.Tyr91Asn) variant of PRPH2 (Peripherin-2)
Y91N (p.Tyr91Asn) 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; Patterned dystrophy of the retinal pigment epithelium; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
Y91N (p.Tyr91Asn) variant details
- p.Tyr91Asn
- rs747893076
- ClinGen CA238587
- ClinVar RCV000173108
- ClinVar RCV001232080
- Uncertain significance
- PRPH2-related disorder; Patterned dystrophy of the retinal pigment epithelium; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.74
- AlphaMissense 0.48
- MetaLR 0.02
- MetaSVM -1.17
- CADD 22.70
- PolyPhen-2 0.04
- ClinVar: Uncertain significance (PRPH2-related disorder; Patterned dystrophy of the retinal pigme)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)
- Structural context available