S61C (p.Ser61Cys) variant of ABCA3 (Q99758)
S61C (p.Ser61Cys) 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 0.29 / 1. The record also includes population frequency data and structural context.
S61C (p.Ser61Cys) variant details
- p.Ser61Cys
- rs1457878698
- ClinGen CA394352413
- ClinVar RCV003213782
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.19
- CADD 22.80
- PolyPhen-2 0.84
- SIFT 0.18
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available