Q14R (p.Gln14Arg) variant of PDE6B (P35913)
Q14R (p.Gln14Arg) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q14R (p.Gln14Arg) variant details
- p.Gln14Arg
- gnomAD 4-625667-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.08
- CADD 10.60
- PolyPhen-2 0.02
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available