E35K (p.Glu35Lys) variant of SPTBN4 (Q9H254)
E35K (p.Glu35Lys) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- gnomAD rs1475569437
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- CADD 24.40
- PolyPhen-2 0.43
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available