N124D (p.Asn124Asp) variant of ABCA3 (Q99758)
N124D (p.Asn124Asp) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
N124D (p.Asn124Asp) variant details
- p.Asn124Asp
- ExAC rs201575440
- TOPMed rs201575440
- gnomAD rs201575440
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.48
- CADD 22.60
- PolyPhen-2 0.72
- SIFT 0.40
- Most common in the Ashkenazi Jewish population (allele frequency 0.00087)
- Structural context available