S128R (p.Ser128Arg) variant of ABCA3 (Q99758)
S128R (p.Ser128Arg) in ABCA3 (Q99758) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S128R (p.Ser128Arg) variant details
- p.Ser128Arg
- ExAC rs772785502
- TOPMed rs772785502
- gnomAD rs772785502
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.41
- CADD 1.96
- PolyPhen-2 0.00
- SIFT 0.37
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available