P48S (p.Pro48Ser) variant of PRRT2 (Q7Z6L0)
P48S (p.Pro48Ser) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- gnomAD rs1900064670
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.03
- CADD 4.73
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available