N124H (p.Asn124His) variant of ABCA3 (Q99758)
N124H (p.Asn124His) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N124H (p.Asn124His) variant details
- p.Asn124His
- ExAC rs201575440
- TOPMed rs201575440
- gnomAD rs201575440
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.43
- CADD 19.70
- PolyPhen-2 0.18
- SIFT 0.12
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available