G109S (p.Gly109Ser) variant of ABCA3 (Q99758)
G109S (p.Gly109Ser) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar 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 0.62 / 1. The record also includes population frequency data and structural context.
G109S (p.Gly109Ser) variant details
- p.Gly109Ser
- rs770790607
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10006
- 1000Genomes rs770790607
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.69
- CADD 23.20
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00047)
- Structural context available