R121S (p.Arg121Ser) variant of ABCA3 (Q99758)
R121S (p.Arg121Ser) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R121S (p.Arg121Ser) variant details
- p.Arg121Ser
- ExAC rs779311575
- TOPMed rs779311575
- gnomAD rs779311575
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.45
- CADD 11.10
- PolyPhen-2 0.10
- SIFT 0.24
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available