D253H (p.Asp253His) variant of ABCA3 (Q99758)
D253H (p.Asp253His) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Interstitial lung disease due to ABCA3 deficiency. 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.
D253H (p.Asp253His) variant details
- p.Asp253His
- ExAC rs780452483
- TOPMed rs780452483
- gnomAD rs780452483
- Likely pathogenic
- Interstitial lung disease due to ABCA3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.83
- MetaLR 0.91
- MetaSVM 1.05
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Interstitial lung disease due to ABCA3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available