R106G (p.Arg106Gly) variant of ABCA3 (Q99758)
R106G (p.Arg106Gly) in ABCA3 (Q99758) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R106G (p.Arg106Gly) variant details
- p.Arg106Gly
- TOPMed rs1278044377
- gnomAD rs1278044377
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.54
- CADD 19.70
- PolyPhen-2 0.17
- SIFT 0.04
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available