D118Y (p.Asp118Tyr) variant of ABCA3 (Q99758)
D118Y (p.Asp118Tyr) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar 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 0.52 / 1. The record also includes population frequency data and structural context.
D118Y (p.Asp118Tyr) variant details
- p.Asp118Tyr
- Ensembl rs929553873
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.49
- CADD 22.80
- PolyPhen-2 0.08
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available