G12A (p.Gly12Ala) variant of PURA (Q00577)
G12A (p.Gly12Ala) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- ExAC rs748308755
- TOPMed rs748308755
- gnomAD rs748308755
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00059)
- Structural context available