A39G (p.Ala39Gly) variant of PRRT2 (Q7Z6L0)
A39G (p.Ala39Gly) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A39G (p.Ala39Gly) variant details
- p.Ala39Gly
- ExAC rs753529940
- TOPMed rs753529940
- gnomAD rs753529940
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.16
- CADD 23.60
- PolyPhen-2 0.10
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available