E16D (p.Glu16Asp) variant of PRRT2 (Q7Z6L0)
E16D (p.Glu16Asp) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E16D (p.Glu16Asp) variant details
- p.Glu16Asp
- ExAC rs749690425
- TOPMed rs749690425
- gnomAD rs749690425
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.03
- CADD 8.80
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available