R47W (p.Arg47Trp) variant of IKBKB (O14920)
R47W (p.Arg47Trp) in IKBKB (O14920) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R47W (p.Arg47Trp) variant details
- p.Arg47Trp
- rs777820763
- ClinGen CA4731585
- ClinVar RCV003133696
- ExAC rs777820763
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.66
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available