R11Q (p.Arg11Gln) variant of ABCD1 (P33897)
R11Q (p.Arg11Gln) in ABCD1 (P33897) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R11Q (p.Arg11Gln) variant details
- p.Arg11Gln
- 1000Genomes rs782122122
- TOPMed rs782122122
- gnomAD rs782122122
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.35
- CADD 15.90
- PolyPhen-2 0.11
- SIFT 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available