A14E (p.Ala14Glu) variant of PURA (Q00577)
A14E (p.Ala14Glu) in PURA (Q00577) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A14E (p.Ala14Glu) variant details
- p.Ala14Glu
- TOPMed rs1282141695
- gnomAD rs1282141695
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available