L62P (p.Leu62Pro) variant of PDE6B (P35913)
L62P (p.Leu62Pro) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L62P (p.Leu62Pro) variant details
- p.Leu62Pro
- ExAC rs756249591
- gnomAD rs756249591
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.78
- MetaLR 0.60
- MetaSVM -0.47
- CADD 26.50
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available