R9L (p.Arg9Leu) variant of PDE6B (P35913)
R9L (p.Arg9Leu) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- gnomAD 4-625652-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.05
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available