E35P (p.Glu35Pro) variant of SPTBN4 (Q9H254)
E35P (p.Glu35Pro) in SPTBN4 (Q9H254) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
E35P (p.Glu35Pro) variant details
- p.Glu35Pro
- gnomAD 19-40472719-AGCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.653
- CADD 28.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available