E37Q (p.Glu37Gln) variant of PDE6B (P35913)
E37Q (p.Glu37Gln) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E37Q (p.Glu37Gln) variant details
- p.Glu37Gln
- gnomAD 4-625735-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.09
- CADD 7.92
- PolyPhen-2 0.06
- SIFT 0.35
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available