S17N (p.Ser17Asn) variant of PRRT2 (Q7Z6L0)
S17N (p.Ser17Asn) 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.
S17N (p.Ser17Asn) variant details
- p.Ser17Asn
- gnomAD 16-29813104-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.06
- CADD 13.50
- PolyPhen-2 0.04
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available