L14L (p.Leu14Leu) variant of SPTBN4 (Q9H254)
L14L (p.Leu14Leu) in SPTBN4 (Q9H254) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- rs910610977
- gnomAD 19-40472663-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0847
- CADD 0.58
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available
- Literature evidence available