L12Q (p.Leu12Gln) variant of PDE6B (P35913)
L12Q (p.Leu12Gln) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L12Q (p.Leu12Gln) variant details
- p.Leu12Gln
- gnomAD 4-625661-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.72
- CADD 24.40
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available