L27P (p.Leu27Pro) variant of PDE6B (P35913)
L27P (p.Leu27Pro) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- gnomAD 4-625706-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.45
- CADD 25.80
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available