F11W (p.Phe11Trp) variant of PDE6B (P35913)
F11W (p.Phe11Trp) in PDE6B (P35913) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
F11W (p.Phe11Trp) variant details
- p.Phe11Trp
- gnomAD 4-625655-GCTTT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 23.90
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available