S4I (p.Ser4Ile) variant of PDE6B (P35913)
S4I (p.Ser4Ile) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S4I (p.Ser4Ile) variant details
- p.Ser4Ile
- ESP rs369501371
- ExAC rs369501371
- TOPMed rs369501371
- gnomAD rs369501371
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.12
- MetaLR 0.23
- MetaSVM -0.66
- CADD 17.00
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available