N50S (p.Asn50Ser) variant of ABCA3 (Q99758)
N50S (p.Asn50Ser) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N50S (p.Asn50Ser) variant details
- p.Asn50Ser
- ESP rs140778917
- TOPMed rs140778917
- gnomAD rs140778917
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.04
- CADD 18.50
- PolyPhen-2 0.04
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available