Q64R (p.Gln64Arg) variant of PDE6B (P35913)
Q64R (p.Gln64Arg) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q64R (p.Gln64Arg) variant details
- p.Gln64Arg
- TOPMed rs1323556975
- gnomAD rs1323556975
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.10
- MetaLR 0.16
- MetaSVM -0.99
- CADD 14.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available