P46T (p.Pro46Thr) variant of BTD (Biotinidase)
P46T (p.Pro46Thr) in BTD (Biotinidase) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P46T (p.Pro46Thr) variant details
- p.Pro46Thr
- rs778785164
- ClinGen CA10617565
- ClinVar RCV002520100
- gnomAD rs778785164
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.30
- CADD 13.20
- PolyPhen-2 0.05
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- 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)