A19A (p.Ala19Ala) variant of PDE6B (P35913)
A19A (p.Ala19Ala) in PDE6B (P35913) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A19A (p.Ala19Ala) variant details
- p.Ala19Ala
- rs1429310895
- gnomAD 4-625683-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0862
- CADD 0.79
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available