F17C (p.Phe17Cys) variant of ABCA1 (O95477)
F17C (p.Phe17Cys) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
F17C (p.Phe17Cys) variant details
- p.Phe17Cys
- gnomAD rs1171398601
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.49
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available