R83H (p.Arg83His) variant of ABCA1 (O95477)
R83H (p.Arg83His) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R83H (p.Arg83His) variant details
- p.Arg83His
- rs751367482
- NCI-TCGA Cosmic COSV6605
- cosmic curated COSV66057
- ExAC rs751367482
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.73
- MetaLR 0.95
- MetaSVM 1.08
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available