G27D (p.Gly27Asp) variant of PURA (Q00577)
G27D (p.Gly27Asp) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G27D (p.Gly27Asp) variant details
- p.Gly27Asp
- gnomAD 5-140114261-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.26
- CADD 23.20
- PolyPhen-2 0.93
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available