R20C (p.Arg20Cys) variant of IKBKB (O14920)
R20C (p.Arg20Cys) in IKBKB (O14920) 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 0.37 / 1. The record also includes population frequency data and structural context.
R20C (p.Arg20Cys) variant details
- p.Arg20Cys
- rs1443757982
- NCI-TCGA Cosmic COSV6059
- cosmic curated COSV60599
- gnomAD rs1443757982
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.27
- CADD 26.80
- PolyPhen-2 0.90
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available