A2D (p.Ala2Asp) variant of ABCA3 (Q99758)
A2D (p.Ala2Asp) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary pulmonary alveolar proteinosis; not provided; Interstitial lung disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- rs148662935
- ClinGen CA7841831
- ClinVar RCV000913469
- ClinVar RCV001257124
- Conflicting interpretations
- Hereditary pulmonary alveolar proteinosis; not provided; Interstitial lung disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.37
- CADD 22.40
- PolyPhen-2 0.31
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Hereditary pulmonary alveolar proteinosis; not provided; Interst)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available