N110K (p.Asn110Lys) variant of STAT2 (P52630)
N110K (p.Asn110Lys) in STAT2 (P52630) 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.
N110K (p.Asn110Lys) variant details
- p.Asn110Lys
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10002
- TOPMed rs1334089083
- gnomAD rs1334089083
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.21
- CADD 17.40
- PolyPhen-2 0.95
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00015)
- Structural context available