P52A (p.Pro52Ala) variant of PRRT2 (Q7Z6L0)
P52A (p.Pro52Ala) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P52A (p.Pro52Ala) variant details
- p.Pro52Ala
- gnomAD 16-29813208-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.16
- CADD 15.60
- PolyPhen-2 0.07
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available