T92A (p.Thr92Ala) variant of ABCA3 (Q99758)
T92A (p.Thr92Ala) 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.
T92A (p.Thr92Ala) variant details
- p.Thr92Ala
- ESP rs371562078
- ExAC rs371562078
- TOPMed rs371562078
- gnomAD rs371562078
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.17
- CADD 5.89
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available