Q7K (p.Gln7Lys) variant of PDE6B (P35913)
Q7K (p.Gln7Lys) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q7K (p.Gln7Lys) variant details
- p.Gln7Lys
- gnomAD 4-625645-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.06
- CADD 11.60
- PolyPhen-2 0.03
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available