T92I (p.Thr92Ile) variant of ABCA3 (Q99758)
T92I (p.Thr92Ile) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T92I (p.Thr92Ile) variant details
- p.Thr92Ile
- ExAC rs763094260
- gnomAD rs763094260
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.16
- CADD 12.70
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available