G19A (p.Gly19Ala) variant of PURA (Q00577)
G19A (p.Gly19Ala) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G19A (p.Gly19Ala) variant details
- p.Gly19Ala
- gnomAD 5-140114237-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available
- Literature evidence available