R30P (p.Arg30Pro) variant of SPTBN4 (Q9H254)
R30P (p.Arg30Pro) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R30P (p.Arg30Pro) variant details
- p.Arg30Pro
- ExAC rs779001495
- TOPMed rs779001495
- gnomAD rs779001495
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available