Y46C (p.Tyr46Cys) variant of ABCA1 (O95477)
Y46C (p.Tyr46Cys) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
Y46C (p.Tyr46Cys) variant details
- p.Tyr46Cys
- ExAC rs774092046
- gnomAD rs774092046
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.78
- CADD 29.50
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available