Q36E (p.Gln36Glu) variant of SPTBN4 (Q9H254)
Q36E (p.Gln36Glu) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
Q36E (p.Gln36Glu) variant details
- p.Gln36Glu
- ESP rs375002828
- ExAC rs375002828
- TOPMed rs375002828
- gnomAD rs375002828
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00015)
- Structural context available