E37A (p.Glu37Ala) variant of PDE6B (P35913)
E37A (p.Glu37Ala) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
E37A (p.Glu37Ala) variant details
- p.Glu37Ala
- gnomAD 4-625736-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0559
- REVEL 0.03
- CADD 3.44
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available