V53V (p.Val53Val) variant of PDE6B (P35913)
V53V (p.Val53Val) in PDE6B (P35913) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V53V (p.Val53Val) variant details
- p.Val53Val
- gnomAD 4-625785-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.375
- CADD 8.21
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available