G16A (p.Gly16Ala) variant of PURA (Q00577)
G16A (p.Gly16Ala) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G16A (p.Gly16Ala) variant details
- p.Gly16Ala
- TOPMed rs1225708436
- gnomAD rs1225708436
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available