S48N (p.Ser48Asn) variant of TBP (TATA-box-binding protein)
S48N (p.Ser48Asn) in TBP (TATA-box-binding protein) 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 0.31 / 1. The record also includes population frequency data and structural context.
S48N (p.Ser48Asn) variant details
- p.Ser48Asn
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10002
- TOPMed rs1779143915
- gnomAD rs1779143915
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.07
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available