S48W (p.Ser48Trp) variant of ABCA3 (Q99758)
S48W (p.Ser48Trp) in ABCA3 (Q99758) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S48W (p.Ser48Trp) variant details
- p.Ser48Trp
- ExAC rs763721411
- TOPMed rs763721411
- gnomAD rs763721411
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.31
- CADD 25.30
- PolyPhen-2 0.94
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available