V3M (p.Val3Met) variant of ABCA3 (Q99758)
V3M (p.Val3Met) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V3M (p.Val3Met) variant details
- p.Val3Met
- ExAC rs773639935
- TOPMed rs773639935
- gnomAD rs773639935
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.35
- CADD 19.30
- PolyPhen-2 0.10
- SIFT 0.21
- Population evidence available
- Structural context available