D43N (p.Asp43Asn) variant of PDE6B (P35913)
D43N (p.Asp43Asn) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- gnomAD 4-625753-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.18
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available