E12Q (p.Glu12Gln) variant of SPTBN4 (Q9H254)
E12Q (p.Glu12Gln) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E12Q (p.Glu12Gln) variant details
- p.Glu12Gln
- Ensembl rs2079898293
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 25.20
- PolyPhen-2 0.63
- SIFT 0.03
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available