A132S (p.Ala132Ser) variant of ABCA3 (Q99758)
A132S (p.Ala132Ser) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
A132S (p.Ala132Ser) variant details
- p.Ala132Ser
- TOPMed rs1029885956
- gnomAD rs1029885956
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.61
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available