F97C (p.Phe97Cys) variant of ABCA1 (O95477)
F97C (p.Phe97Cys) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
F97C (p.Phe97Cys) variant details
- p.Phe97Cys
- ExAC rs768439631
- gnomAD rs768439631
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.92
- MetaLR 0.83
- MetaSVM 0.85
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available