R1550W (p.Arg1550Trp) variant of ABCA3 (Q99758)
R1550W (p.Arg1550Trp) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary pulmonary alveolar proteinosis; Interstitial lung disease due to ABCA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R1550W (p.Arg1550Trp) variant details
- p.Arg1550Trp
- rs781422468
- ClinGen CA7840056
- NCI-TCGA Cosmic COSV5704
- cosmic curated COSV57049
- Likely pathogenic
- Hereditary pulmonary alveolar proteinosis; Interstitial lung disease due to ABCA
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.87
- MetaLR 0.96
- MetaSVM 1.09
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Hereditary pulmonary alveolar proteinosis; Interstitial lung dis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available