R126H (p.Arg126His) variant of ABCA1 (O95477)
R126H (p.Arg126His) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R126H (p.Arg126His) variant details
- p.Arg126His
- rs138438101
- NCI-TCGA Cosmic COSV6605
- cosmic curated COSV66057
- ESP rs138438101
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.25
- MetaLR 0.60
- MetaSVM -0.35
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Likely benign (Cardiovascular phenotype)
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available