G27A (p.Gly27Ala) variant of PURA (Q00577)
G27A (p.Gly27Ala) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G27A (p.Gly27Ala) variant details
- p.Gly27Ala
- gnomAD 5-140114261-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.23
- ESM-1b 0.51
- AlphaMissense 0.09
- CADD 22.70
- PolyPhen-2 0.79
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available