A14T (p.Ala14Thr) variant of PURA (Q00577)
A14T (p.Ala14Thr) in PURA (Q00577) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- 1000Genomes rs1046152089
- TOPMed rs1046152089
- gnomAD rs1046152089
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available