S48L (p.Ser48Leu) variant of ABCA3 (Q99758)
S48L (p.Ser48Leu) 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 0.42 / 1. The record also includes population frequency data and structural context.
S48L (p.Ser48Leu) variant details
- p.Ser48Leu
- cosmic curated COSV57062
- ExAC rs763721411
- TOPMed rs763721411
- gnomAD rs763721411
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.20
- CADD 22.50
- PolyPhen-2 0.10
- SIFT 0.65
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available