L50P (p.Leu50Pro) variant of PDE6B (P35913)
L50P (p.Leu50Pro) 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.
L50P (p.Leu50Pro) variant details
- p.Leu50Pro
- gnomAD 4-625775-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.49
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available