S65R (p.Ser65Arg) variant of IL12B (Interleukin-12 subunit beta)
S65R (p.Ser65Arg) in IL12B (Interleukin-12 subunit beta) 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 0.05 / 1. The record also includes population frequency data and structural context.
S65R (p.Ser65Arg) variant details
- p.Ser65Arg
- NCI-TCGA Cosmic COSV9918
- ExAC rs768578364
- TOPMed rs768578364
- gnomAD rs768578364
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0534
- REVEL 0.00
- MetaLR 0.03
- MetaSVM -1.01
- CADD 0.09
- PolyPhen-2 0.01
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available