S6P (p.Ser6Pro) variant of PRRT2 (Q7Z6L0)
S6P (p.Ser6Pro) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S6P (p.Ser6Pro) variant details
- p.Ser6Pro
- gnomAD 16-29813070-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.24
- CADD 19.30
- PolyPhen-2 0.40
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available