I10F (p.Ile10Phe) variant of ALPL (P05186)
I10F (p.Ile10Phe) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I10F (p.Ile10Phe) variant details
- p.Ile10Phe
- TOPMed rs987088751
- gnomAD rs987088751
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.43
- CADD 13.80
- PolyPhen-2 0.07
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available