D43A (p.Asp43Ala) variant of PDE6B (P35913)
D43A (p.Asp43Ala) in PDE6B (P35913) is a missense 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.
D43A (p.Asp43Ala) variant details
- p.Asp43Ala
- gnomAD 4-625754-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0872
- REVEL 0.11
- CADD 0.29
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available