S48* (p.Ser48Ter) variant of ABCA3 (Q99758)
S48* (p.Ser48Ter) 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 0.84 / 1. The record also includes population frequency data and structural context.
S48* (p.Ser48Ter) variant details
- p.Ser48Ter
- rs763721411
- ClinGen CA394352621
- ClinVar RCV003719059
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.838
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available