E30D (p.Glu30Asp) variant of PDE6B (P35913)
E30D (p.Glu30Asp) in PDE6B (P35913) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- gnomAD 4-625716-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.04
- CADD 8.58
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available