V97A (p.Val97Ala) variant of ABCA3 (Q99758)
V97A (p.Val97Ala) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V97A (p.Val97Ala) variant details
- p.Val97Ala
- rs1267775571
- ClinGen CA394351873
- ClinVar RCV004154100
- TOPMed rs1267775571
- Likely benign
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.16
- CADD 7.57
- PolyPhen-2 0.07
- SIFT 0.12
- ClinVar: Likely benign (Hereditary pulmonary alveolar proteinosis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available