L27Q (p.Leu27Gln) variant of PDE6B (P35913)
L27Q (p.Leu27Gln) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L27Q (p.Leu27Gln) variant details
- p.Leu27Gln
- ExAC rs777693058
- TOPMed rs777693058
- gnomAD rs777693058
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.27
- MetaLR 0.47
- MetaSVM -0.03
- CADD 25.40
- PolyPhen-2 0.87
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available