R130I (p.Arg130Ile) variant of ABCA1 (O95477)
R130I (p.Arg130Ile) in ABCA1 (O95477) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
R130I (p.Arg130Ile) variant details
- p.Arg130Ile
- NCI-TCGA Cosmic COSV6605
- cosmic curated COSV66057
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.71
- MetaSVM 0.01
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available