P42P (p.Pro42Pro) variant of PDE6B (P35913)
P42P (p.Pro42Pro) 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.
P42P (p.Pro42Pro) variant details
- p.Pro42Pro
- rs533513647
- gnomAD 4-625752-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0918
- CADD 1.58
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available