T25K (p.Thr25Lys) variant of ABCA3 (Q99758)
T25K (p.Thr25Lys) in ABCA3 (Q99758) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
T25K (p.Thr25Lys) variant details
- p.Thr25Lys
- ExAC rs769313907
- TOPMed rs769313907
- gnomAD rs769313907
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.77
- CADD 23.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available