E58D (p.Glu58Asp) variant of SPTBN4 (Q9H254)
E58D (p.Glu58Asp) in SPTBN4 (Q9H254) 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.
E58D (p.Glu58Asp) variant details
- p.Glu58Asp
- NCI-TCGA TCGA novel
- cosmic curated COSV10886
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 22.90
- PolyPhen-2 0.82
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available