G31D (p.Gly31Asp) variant of PRPH2 (Peripherin-2)
G31D (p.Gly31Asp) 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 0.86 / 1. The record also includes population frequency data and structural context.
G31D (p.Gly31Asp) variant details
- p.Gly31Asp
- TOPMed rs886061404
- gnomAD rs886061404
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.90
- AlphaMissense 0.90
- MetaLR 0.81
- MetaSVM 0.77
- CADD 25.20
- PolyPhen-2 0.89
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available