A47S (p.Ala47Ser) variant of PRRT2 (Q7Z6L0)
A47S (p.Ala47Ser) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A47S (p.Ala47Ser) variant details
- p.Ala47Ser
- ExAC rs750429521
- gnomAD rs750429521
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.07
- CADD 11.50
- PolyPhen-2 0.14
- SIFT 0.05
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available