N13S (p.Asn13Ser) variant of CRBN (Protein cereblon)
N13S (p.Asn13Ser) in CRBN (Protein cereblon) 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 0.23 / 1. The record also includes population frequency data and structural context.
N13S (p.Asn13Ser) variant details
- p.Asn13Ser
- NCI-TCGA Cosmic COSV5164
- cosmic curated COSV51641
- Ensembl rs1707990695
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.09
- CADD 24.00
- PolyPhen-2 0.04
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 0.00021)
- Structural context available