S126L (p.Ser126Leu) variant of ABCA3 (Q99758)
S126L (p.Ser126Leu) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S126L (p.Ser126Leu) variant details
- p.Ser126Leu
- ESP rs377155167
- ExAC rs377155167
- TOPMed rs377155167
- gnomAD rs377155167
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.69
- CADD 25.70
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available