N53Y (p.Asn53Tyr) variant of PRRT2 (Q7Z6L0)
N53Y (p.Asn53Tyr) in PRRT2 (Q7Z6L0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
N53Y (p.Asn53Tyr) variant details
- p.Asn53Tyr
- gnomAD rs1164379703
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.08
- CADD 22.30
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available