S128G (p.Ser128Gly) variant of ABCA3 (Q99758)
S128G (p.Ser128Gly) 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 0.26 / 1. The record also includes population frequency data and structural context.
S128G (p.Ser128Gly) variant details
- p.Ser128Gly
- rs762775158
- ClinGen CA7841685
- ClinVar RCV002355380
- ExAC rs762775158
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.21
- CADD 17.50
- PolyPhen-2 0.04
- SIFT 0.30
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available