W179C (p.Trp179Cys) variant of ABCA3 (Q99758)
W179C (p.Trp179Cys) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Interstitial lung disease due to ABCA3 deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
W179C (p.Trp179Cys) variant details
- p.Trp179Cys
- rs2505674367
- ClinGen CA394349558
- ClinVar RCV003561301
- ClinVar RCV005429438
- Pathogenic/Likely pathogenic
- Interstitial lung disease due to ABCA3 deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.89
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Interstitial lung disease due to ABCA3 deficiency; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.3e-05)
- Structural context available