I46V (p.Ile46Val) variant of ABCA3 (Q99758)
I46V (p.Ile46Val) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
I46V (p.Ile46Val) variant details
- p.Ile46Val
- ExAC rs751290060
- TOPMed rs751290060
- gnomAD rs751290060
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.10
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available