L62A (p.Leu62Ala) variant of PDE6B (P35913)
L62A (p.Leu62Ala) in PDE6B (P35913) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L62A (p.Leu62Ala) variant details
- p.Leu62Ala
- gnomAD 4-625808-A-AG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.373
- CADD 25.40
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available