I8F (p.Ile8Phe) variant of PRRT2 (Q7Z6L0)
I8F (p.Ile8Phe) 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, published literature, and structural context.
I8F (p.Ile8Phe) variant details
- p.Ile8Phe
- gnomAD 16-29813076-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.08
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available