R130G (p.Arg130Gly) variant of ABCA1 (O95477)
R130G (p.Arg130Gly) in ABCA1 (O95477) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
R130G (p.Arg130Gly) variant details
- p.Arg130Gly
- ExAC rs759052376
- gnomAD rs759052376
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.17
- MetaLR 0.73
- MetaSVM -0.14
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.58
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available