R43H (p.Arg43His) variant of ABCA3 (Q99758)
R43H (p.Arg43His) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Primary interstitial lung disease specific to childhood due to pulmonary surfact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
R43H (p.Arg43His) variant details
- p.Arg43His
- rs754714105
- ClinGen CA7841779
- ClinVar RCV000221771
- ClinVar RCV001804948
- Pathogenic/Likely pathogenic
- Primary interstitial lung disease specific to childhood due to pulmonary surfact
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.95
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Primary interstitial lung disease specific to childhood due to p)
- EBI: Pathogenic (in SMDP3)
- UniProt: Pathogenic (in SMDP3)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available