H52R (p.His52Arg) variant of ABCA1 (O95477)
H52R (p.His52Arg) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
H52R (p.His52Arg) variant details
- p.His52Arg
- gnomAD rs1210208195
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.50
- CADD 25.50
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available