L8del (p.Leu8del) variant of ALPL (P05186)
L8del (p.Leu8del) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L8del (p.Leu8del) variant details
- gnomAD 1-21554100-GTAC-G
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 17.20
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available