R43W (p.Arg43Trp) variant of ABCA1 (O95477)
R43W (p.Arg43Trp) in ABCA1 (O95477) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R43W (p.Arg43Trp) variant details
- p.Arg43Trp
- rs1458927804
- NCI-TCGA Cosmic COSV6605
- cosmic curated COSV66057
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available