I55del (p.Ile55del) variant of ALPL (P05186)
I55del (p.Ile55del) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I55del (p.Ile55del) variant details
- rs766831104
- gnomAD 1-21560724-GTCA-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 21.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available