A3D (p.Ala3Asp) variant of PRRT2 (Q7Z6L0)
A3D (p.Ala3Asp) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A3D (p.Ala3Asp) variant details
- p.Ala3Asp
- gnomAD 16-29813062-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.13
- CADD 24.80
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available