P138T (p.Pro138Thr) variant of ABCA3 (Q99758)
P138T (p.Pro138Thr) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P138T (p.Pro138Thr) variant details
- p.Pro138Thr
- rs369686350
- ClinGen CA276851992
- ClinVar RCV002333047
- 1000Genomes rs369686350
- Likely benign
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.17
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Likely benign (Hereditary pulmonary alveolar proteinosis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MOZABITE population (allele frequency 0.06)
- Structural context available