A33A (p.Ala33Ala) variant of PDE6B (P35913)
A33A (p.Ala33Ala) in PDE6B (P35913) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A33A (p.Ala33Ala) variant details
- p.Ala33Ala
- rs1238383592
- gnomAD 4-625725-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0826
- CADD 0.27
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available