V149G (p.Val149Gly) variant of ABCA1 (O95477)
V149G (p.Val149Gly) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
V149G (p.Val149Gly) variant details
- p.Val149Gly
- rs2119105512
- ClinGen CA374313245
- ClinVar RCV001509364
- Ensembl rs2119105512
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.49
- MetaLR 0.76
- MetaSVM 0.16
- CADD 17.50
- PolyPhen-2 0.02
- SIFT 0.39
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available