I40M (p.Ile40Met) variant of ABCA3 (Q99758)
I40M (p.Ile40Met) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
I40M (p.Ile40Met) variant details
- p.Ile40Met
- TOPMed rs1447629085
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.29
- CADD 5.87
- PolyPhen-2 0.20
- SIFT 0.27
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available