G26A (p.Gly26Ala) variant of PRRT2 (Q7Z6L0)
G26A (p.Gly26Ala) in PRRT2 (Q7Z6L0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G26A (p.Gly26Ala) variant details
- p.Gly26Ala
- rs1227681764
- ClinGen CA395477179
- ClinVar RCV001840845
- TOPMed rs1227681764
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.11
- CADD 19.60
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available