I46F (p.Ile46Phe) variant of ABCA3 (Q99758)
I46F (p.Ile46Phe) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I46F (p.Ile46Phe) variant details
- p.Ile46Phe
- ExAC rs751290060
- TOPMed rs751290060
- gnomAD rs751290060
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.20
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available