Q47R (p.Gln47Arg) variant of ABCA3 (Q99758)
Q47R (p.Gln47Arg) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q47R (p.Gln47Arg) variant details
- p.Gln47Arg
- TOPMed rs997304312
- gnomAD rs997304312
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.42
- CADD 19.40
- PolyPhen-2 0.04
- SIFT 0.52
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available