R208W (p.Arg208Trp) variant of ABCA3 (Q99758)
R208W (p.Arg208Trp) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Surfactant metabolism dysfunction, pulmonary, 1; Interstitial lung. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
R208W (p.Arg208Trp) variant details
- p.Arg208Trp
- rs768483175
- ClinGen CA501015
- cosmic curated COSV57052
- ClinVar RCV002030845
- Pathogenic/Likely pathogenic
- not provided; Surfactant metabolism dysfunction, pulmonary, 1; Interstitial lung
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.84
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Surfactant metabolism dysfunction, pulmonary, 1; I)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available