P34S (p.Pro34Ser) variant of PRRT2 (Q7Z6L0)
P34S (p.Pro34Ser) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- gnomAD rs1273764641
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.08
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available