S2N (p.Ser2Asn) variant of IKBKB (O14920)
S2N (p.Ser2Asn) 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 0.33 / 1. The record also includes population frequency data and structural context.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- rs1298511635
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10064
- TOPMed rs1298511635
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.13
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.44
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available