A14G (p.Ala14Gly) variant of PURA (Q00577)
A14G (p.Ala14Gly) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A14G (p.Ala14Gly) variant details
- p.Ala14Gly
- gnomAD 5-140114222-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available