L59Q (p.Leu59Gln) variant of PDE6B (P35913)
L59Q (p.Leu59Gln) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L59Q (p.Leu59Gln) variant details
- p.Leu59Gln
- gnomAD rs749588111
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.74
- MetaLR 0.63
- MetaSVM -0.22
- CADD 24.50
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available