F116C (p.Phe116Cys) variant of ABCA3 (Q99758)
F116C (p.Phe116Cys) in ABCA3 (Q99758) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
F116C (p.Phe116Cys) variant details
- p.Phe116Cys
- ExAC rs780516803
- gnomAD rs780516803
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.91
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available