Q71H (p.Gln71His) variant of ABCA1 (O95477)
Q71H (p.Gln71His) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
Q71H (p.Gln71His) variant details
- p.Gln71His
- gnomAD rs1301632435
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.88
- MetaLR 0.99
- MetaSVM 1.07
- CADD 24.00
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available