R106* (p.Arg106Ter) variant of ABCA3 (Q99758)
R106* (p.Arg106Ter) in ABCA3 (Q99758) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R106* (p.Arg106Ter) variant details
- p.Arg106Ter
- rs1278044377
- ClinGen CA394351658
- NCI-TCGA Cosmic COSV5705
- cosmic curated COSV57059
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.752
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available