H23T (p.His23Thr) variant of PURA (Q00577)
H23T (p.His23Thr) in PURA (Q00577) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
H23T (p.His23Thr) variant details
- p.His23Thr
- rs1581036051
- gnomAD 5-140114243-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available