Q7H (p.Gln7His) variant of PDE6B (P35913)
Q7H (p.Gln7His) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q7H (p.Gln7His) variant details
- p.Gln7His
- gnomAD 4-625647-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.10
- CADD 12.60
- PolyPhen-2 0.29
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available