P37S (p.Pro37Ser) variant of SPTBN4 (Q9H254)
P37S (p.Pro37Ser) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- 1000Genomes rs541947221
- ExAC rs541947221
- gnomAD rs541947221
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 15.90
- PolyPhen-2 0.06
- SIFT 0.39
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available