C72F (p.Cys72Phe) variant of PRPH2 (Peripherin-2)
C72F (p.Cys72Phe) in PRPH2 (Peripherin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
C72F (p.Cys72Phe) variant details
- p.Cys72Phe
- ESP rs375090109
- ExAC rs375090109
- TOPMed rs375090109
- gnomAD rs375090109
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.48
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available