V3A (p.Val3Ala) variant of ABCA3 (Q99758)
V3A (p.Val3Ala) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V3A (p.Val3Ala) variant details
- p.Val3Ala
- TOPMed rs1175119413
- gnomAD rs1175119413
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.33
- CADD 17.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available