I72I (p.Ile72Ile) variant of ALPL (P05186)
I72I (p.Ile72Ile) in ALPL (P05186) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
I72I (p.Ile72Ile) variant details
- p.Ile72Ile
- rs1644478962
- gnomAD 1-21561131-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 11.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available