D17H (p.Asp17His) variant of PDE6B (P35913)
D17H (p.Asp17His) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
D17H (p.Asp17His) variant details
- p.Asp17His
- gnomAD 4-625675-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0812
- REVEL 0.10
- CADD 0.14
- PolyPhen-2 0.18
- SIFT 0.13
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available