D123E (p.Asp123Glu) variant of ABCA3 (Q99758)
D123E (p.Asp123Glu) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D123E (p.Asp123Glu) variant details
- p.Asp123Glu
- Ensembl rs753500876
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.28
- CADD 14.30
- PolyPhen-2 0.02
- SIFT 0.39
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available