S61F (p.Ser61Phe) variant of ABCA3 (Q99758)
S61F (p.Ser61Phe) 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 0.22 / 1. The record also includes population frequency data and structural context.
S61F (p.Ser61Phe) variant details
- p.Ser61Phe
- rs1457878698
- ClinGen CA394352411
- ClinVar RCV004149325
- TOPMed rs1457878698
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.10
- CADD 17.00
- PolyPhen-2 0.06
- SIFT 0.71
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available