L60Q (p.Leu60Gln) variant of PDE6B (P35913)
L60Q (p.Leu60Gln) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L60Q (p.Leu60Gln) variant details
- p.Leu60Gln
- ExAC rs759667480
- TOPMed rs759667480
- gnomAD rs759667480
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.46
- MetaLR 0.42
- MetaSVM -0.78
- CADD 23.00
- PolyPhen-2 0.37
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available