P52S (p.Pro52Ser) variant of PRRT2 (Q7Z6L0)
P52S (p.Pro52Ser) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P52S (p.Pro52Ser) variant details
- p.Pro52Ser
- gnomAD 16-29813208-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.17
- CADD 6.93
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available