D17N (p.Asp17Asn) variant of PDE6B (P35913)
D17N (p.Asp17Asn) 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 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
D17N (p.Asp17Asn) variant details
- p.Asp17Asn
- rs866891056
- ClinGen CA91051729
- ClinVar RCV002012877
- ClinVar RCV005704845
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0962
- REVEL 0.07
- MetaLR 0.11
- MetaSVM -1.01
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- 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)