A2E (p.Ala2Glu) variant of PURA (Q00577)
A2E (p.Ala2Glu) in PURA (Q00577) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 5-140114186-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.23
- ESM-1b 0.18
- AlphaMissense 0.72
- CADD 23.00
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available