E55D (p.Glu55Asp) variant of PDE6B (P35913)
E55D (p.Glu55Asp) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E55D (p.Glu55Asp) variant details
- p.Glu55Asp
- rs770318126
- ClinGen CA2793859
- ClinVar RCV001214987
- ClinVar RCV006372246
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.47
- MetaLR 0.56
- MetaSVM 0.24
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)