A89P (p.Ala89Pro) variant of PRPH2 (Peripherin-2)
A89P (p.Ala89Pro) 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 0.16 / 1. The record also includes population frequency data and structural context.
A89P (p.Ala89Pro) variant details
- p.Ala89Pro
- ExAC rs773254206
- TOPMed rs773254206
- gnomAD rs773254206
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.09
- CADD 8.96
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available