L18I (p.Leu18Ile) variant of ALPL (P05186)
L18I (p.Leu18Ile) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L18I (p.Leu18Ile) variant details
- p.Leu18Ile
- gnomAD rs1221539606
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.20
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.97
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available