R110W (p.Arg110Trp) variant of ABCA1 (O95477)
R110W (p.Arg110Trp) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R110W (p.Arg110Trp) variant details
- p.Arg110Trp
- rs769844472
- ClinGen CA5169425
- cosmic curated COSV10654
- ClinVar RCV002626904
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.15
- MetaLR 0.21
- MetaSVM -0.56
- CADD 24.40
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available