E33K (p.Glu33Lys) variant of SPTBN4 (Q9H254)
E33K (p.Glu33Lys) in SPTBN4 (Q9H254) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- TOPMed rs1307934970
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available