I56V (p.Ile56Val) variant of ABCA3 (Q99758)
I56V (p.Ile56Val) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Hereditary pulmonary alveolar proteinosis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
I56V (p.Ile56Val) variant details
- p.Ile56Val
- ExAC rs774682550
- gnomAD rs774682550
- Conflicting interpretations
- Hereditary pulmonary alveolar proteinosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0422
- REVEL 0.02
- CADD 1.12
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Conflicting classifications of pathogenicity (Hereditary pulmonary alveolar proteinosis; not provided)
- UniProt: Conflicting interpretations
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available