A17T (p.Ala17Thr) variant of PRPH2 (Peripherin-2)
A17T (p.Ala17Thr) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- ExAC rs777717115
- TOPMed rs777717115
- gnomAD rs777717115
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.38
- CADD 25.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available