D5G (p.Asp5Gly) variant of PURA (Q00577)
D5G (p.Asp5Gly) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D5G (p.Asp5Gly) variant details
- p.Asp5Gly
- gnomAD 5-140114195-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.79
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available