T92S (p.Thr92Ser) variant of ABCA3 (Q99758)
T92S (p.Thr92Ser) 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 0.17 / 1. The record also includes population frequency data and structural context.
T92S (p.Thr92Ser) variant details
- p.Thr92Ser
- ESP rs371562078
- ExAC rs371562078
- TOPMed rs371562078
- gnomAD rs371562078
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.11
- CADD 5.09
- PolyPhen-2 0.01
- SIFT 0.67
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available