L60P (p.Leu60Pro) variant of PDE6B (P35913)
L60P (p.Leu60Pro) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L60P (p.Leu60Pro) variant details
- p.Leu60Pro
- ExAC rs759667480
- TOPMed rs759667480
- gnomAD rs759667480
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.51
- MetaLR 0.42
- MetaSVM -0.78
- CADD 23.20
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available