T16A (p.Thr16Ala) variant of ABCA3 (Q99758)
T16A (p.Thr16Ala) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
T16A (p.Thr16Ala) variant details
- p.Thr16Ala
- ExAC rs778818945
- gnomAD rs778818945
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.16
- CADD 23.40
- PolyPhen-2 0.19
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available