R106Q (p.Arg106Gln) variant of ABCA3 (Q99758)
R106Q (p.Arg106Gln) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R106Q (p.Arg106Gln) variant details
- p.Arg106Gln
- ESP rs371116381
- ExAC rs371116381
- TOPMed rs371116381
- gnomAD rs371116381
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.32
- CADD 18.10
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available