P58L (p.Pro58Leu) variant of ABCA3 (Q99758)
P58L (p.Pro58Leu) 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 0.26 / 1. The record also includes population frequency data and structural context.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- ExAC rs749485914
- TOPMed rs749485914
- gnomAD rs749485914
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.11
- CADD 22.30
- PolyPhen-2 0.13
- SIFT 0.10
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available