G25A (p.Gly25Ala) variant of PURA (Q00577)
G25A (p.Gly25Ala) 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, published literature, and structural context.
G25A (p.Gly25Ala) variant details
- p.Gly25Ala
- gnomAD 5-140114255-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available