R43C (p.Arg43Cys) variant of ABCA3 (Q99758)
R43C (p.Arg43Cys) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.84 / 1. The record also includes population frequency data and structural context.
R43C (p.Arg43Cys) variant details
- p.Arg43Cys
- rs373617498
- ClinGen CA7841780
- cosmic curated COSV10006
- ClinVar RCV002385293
- Pathogenic/Likely pathogenic
- Hereditary pulmonary alveolar proteinosis; not provided; Interstitial lung disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.94
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary pulmonary alveolar proteinosis; not provided; Interst)
- EBI: Pathogenic (in SMDP3)
- UniProt: Pathogenic (in SMDP3)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available