R30Q (p.Arg30Gln) variant of SPTBN4 (Q9H254)
R30Q (p.Arg30Gln) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R30Q (p.Arg30Gln) variant details
- p.Arg30Gln
- ExAC rs779001495
- TOPMed rs779001495
- gnomAD rs779001495
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 23.40
- PolyPhen-2 0.92
- SIFT 0.58
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available