H78H (p.His78His) variant of ALPL (P05186)
H78H (p.His78His) in ALPL (P05186) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
H78H (p.His78His) variant details
- p.His78His
- rs1375160574
- gnomAD 1-21561149-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 10.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available