P63S (p.Pro63Ser) variant of PRRT2 (Q7Z6L0)
P63S (p.Pro63Ser) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P63S (p.Pro63Ser) variant details
- p.Pro63Ser
- gnomAD 16-29813241-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.14
- CADD 8.10
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available