E83K (p.Glu83Lys) variant of SATB2 (DNA-binding protein SATB2)
E83K (p.Glu83Lys) in SATB2 (DNA-binding protein SATB2) 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 0.55 / 1. The record also includes population frequency data and structural context.
E83K (p.Glu83Lys) variant details
- p.Glu83Lys
- NCI-TCGA Cosmic COSV5349
- cosmic curated COSV53490
- gnomAD rs1691562317
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 28.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available