D50N (p.Asp50Asn) variant of PRPH2 (Peripherin-2)
D50N (p.Asp50Asn) 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 0.34 / 1. The record also includes population frequency data and structural context.
D50N (p.Asp50Asn) variant details
- p.Asp50Asn
- rs747987442
- ClinGen CA3808657
- ClinVar RCV003033746
- ExAC rs747987442
- Uncertain significance
- PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.10
- AlphaMissense 0.44
- MetaLR 0.02
- MetaSVM -0.93
- CADD 22.50
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (PRPH2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available