R48W (p.Arg48Trp) variant of PDE6B (P35913)
R48W (p.Arg48Trp) in PDE6B (P35913) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R48W (p.Arg48Trp) variant details
- p.Arg48Trp
- rs191195745
- ClinGen CA2793856
- cosmic curated COSV10505
- ClinVar RCV001235848
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.17
- MetaLR 0.27
- MetaSVM -0.75
- CADD 19.20
- PolyPhen-2 0.46
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)