D108G (p.Asp108Gly) variant of ABCA1 (O95477)
D108G (p.Asp108Gly) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
D108G (p.Asp108Gly) variant details
- p.Asp108Gly
- rs2538345868
- ClinGen CA374316091
- ClinVar RCV004370314
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.91
- MetaLR 0.93
- MetaSVM 1.08
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.26
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available