L14M (p.Leu14Met) variant of SPTBN4 (Q9H254)
L14M (p.Leu14Met) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- TOPMed rs1438499588
- gnomAD rs1438499588
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 14.90
- PolyPhen-2 0.10
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available