N124S (p.Asn124Ser) variant of ABCA3 (Q99758)
N124S (p.Asn124Ser) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary pulmonary alveolar proteinosis; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N124S (p.Asn124Ser) variant details
- p.Asn124Ser
- rs142977595
- ClinGen CA7841690
- ClinVar RCV000612210
- ClinVar RCV001121934
- Conflicting interpretations
- Hereditary pulmonary alveolar proteinosis; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.43
- CADD 17.90
- PolyPhen-2 0.30
- SIFT 0.40
- ClinVar: Conflicting classifications of pathogenicity (Hereditary pulmonary alveolar proteinosis; not specified; not pr)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BASQUE population (allele frequency 0.045)
- Structural context available