Q36K (p.Gln36Lys) variant of SPTBN4 (Q9H254)
Q36K (p.Gln36Lys) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
Q36K (p.Gln36Lys) variant details
- p.Gln36Lys
- ESP rs375002828
- ExAC rs375002828
- TOPMed rs375002828
- gnomAD rs375002828
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available