G47S (p.Gly47Ser) variant of CYP17A1 (P05093)
G47S (p.Gly47Ser) in CYP17A1 (P05093) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G47S (p.Gly47Ser) variant details
- p.Gly47Ser
- rs776568154
- ClinGen CA5669640
- ClinVar RCV003272394
- ExAC rs776568154
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.17
- CADD 17.40
- PolyPhen-2 0.91
- SIFT 0.77
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-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)