L50L (p.Leu50Leu) variant of PDE6B (P35913)
L50L (p.Leu50Leu) in PDE6B (P35913) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- gnomAD 4-625776-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.218
- CADD 3.90
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available