I10V (p.Ile10Val) variant of ALPL (P05186)
I10V (p.Ile10Val) in ALPL (P05186) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
I10V (p.Ile10Val) variant details
- p.Ile10Val
- TOPMed rs987088751
- gnomAD rs987088751
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.32
- CADD 8.01
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available