V53G (p.Val53Gly) variant of PDE6B (P35913)
V53G (p.Val53Gly) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V53G (p.Val53Gly) variant details
- p.Val53Gly
- ExAC rs746580719
- TOPMed rs746580719
- gnomAD rs746580719
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.42
- MetaLR 0.36
- MetaSVM -0.28
- CADD 23.40
- PolyPhen-2 0.13
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available