T25M (p.Thr25Met) variant of ABCA3 (Q99758)
T25M (p.Thr25Met) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
T25M (p.Thr25Met) variant details
- p.Thr25Met
- rs769313907
- ClinGen CA7841791
- NCI-TCGA Cosmic COSV5705
- cosmic curated COSV57054
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.57
- CADD 24.80
- PolyPhen-2 0.97
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available