N53S (p.Asn53Ser) variant of ABCA3 (Q99758)
N53S (p.Asn53Ser) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
N53S (p.Asn53Ser) variant details
- p.Asn53Ser
- rs918921301
- ClinGen CA276853835
- ClinVar RCV002398388
- gnomAD rs918921301
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.06
- CADD 19.60
- PolyPhen-2 0.03
- SIFT 0.38
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available