V133M (p.Val133Met) variant of ABCA3 (Q99758)
V133M (p.Val133Met) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.46 / 1. The record also includes population frequency data and structural context.
V133M (p.Val133Met) variant details
- p.Val133Met
- rs201400258
- ClinGen CA7841680
- ClinVar RCV000293579
- ClinVar RCV002356430
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis; Interstitial lung disease due to ABCA
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.52
- CADD 15.50
- PolyPhen-2 0.82
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis; Interstitial lung dis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available