P186L (p.Pro186Leu) variant of ABCA3 (Q99758)
P186L (p.Pro186Leu) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary pulmonary alveolar proteinosis; Interstitial lung disease due to ABCA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P186L (p.Pro186Leu) variant details
- p.Pro186Leu
- rs1297025959
- ClinGen CA394349376
- ClinVar RCV002344737
- ClinVar RCV004801201
- Likely pathogenic
- Hereditary pulmonary alveolar proteinosis; Interstitial lung disease due to ABCA
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.70
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary pulmonary alveolar proteinosis; Interstitial lung dis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available