P32L (p.Pro32Leu) variant of ABCA3 (Q99758)
P32L (p.Pro32Leu) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- rs771082062
- ClinGen CA7841785
- ClinVar RCV002374352
- ClinVar RCV003103593
- Uncertain significance
- not provided; Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.82
- CADD 24.70
- PolyPhen-2 0.48
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available