E12E (p.Glu12Glu) variant of SPTBN4 (Q9H254)
E12E (p.Glu12Glu) in SPTBN4 (Q9H254) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E12E (p.Glu12Glu) variant details
- p.Glu12Glu
- rs1272342616
- gnomAD 19-40472657-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 7.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available