L101F (p.Leu101Phe) variant of ABCA3 (Q99758)
L101F (p.Leu101Phe) 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 0.10 / 1. The record also includes population frequency data and structural context.
L101F (p.Leu101Phe) variant details
- p.Leu101Phe
- TOPMed rs1352909711
- gnomAD rs1352909711
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.0975
- REVEL 0.11
- CADD 2.47
- PolyPhen-2 0.05
- SIFT 0.37
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- UniProt: Uncertain significance (in SMDP3)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available