A17P (p.Ala17Pro) variant of PRPH2 (Peripherin-2)
A17P (p.Ala17Pro) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A17P (p.Ala17Pro) variant details
- p.Ala17Pro
- ExAC rs777717115
- TOPMed rs777717115
- gnomAD rs777717115
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.49
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available