E47K (p.Glu47Lys) variant of ZRSR2 (Q15696)
E47K (p.Glu47Lys) in ZRSR2 (Q15696) 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.
E47K (p.Glu47Lys) variant details
- p.Glu47Lys
- NCI-TCGA TCGA novel
- gnomAD rs1932608014
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -0.82
- CADD 20.90
- PolyPhen-2 0.26
- SIFT 0.66
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 9.6e-05)
- Structural context available