R8M (p.Arg8Met) variant of ABCA1 (O95477)
R8M (p.Arg8Met) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R8M (p.Arg8Met) variant details
- p.Arg8Met
- ExAC rs748989873
- gnomAD rs748989873
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.08
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available