P37L (p.Pro37Leu) variant of SPTBN4 (Q9H254)
P37L (p.Pro37Leu) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- gnomAD rs1461355419
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 3.18
- PolyPhen-2 0.04
- SIFT 0.85
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available