E48K (p.Glu48Lys) variant of ZRSR2 (Q15696)
E48K (p.Glu48Lys) 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 0.34 / 1. The record also includes population frequency data and structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- rs777454064
- NCI-TCGA Cosmic COSV5706
- cosmic curated COSV57063
- ExAC rs777454064
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.20
- MetaLR 0.74
- MetaSVM 0.60
- CADD 23.80
- PolyPhen-2 0.97
- SIFT 0.34
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 7.5e-05)
- Structural context available