H23H (p.His23His) variant of PURA (Q00577)
H23H (p.His23His) in PURA (Q00577) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
H23H (p.His23His) variant details
- p.His23His
- gnomAD 5-140114250-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 14.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available