D47E (p.Asp47Glu) variant of TMC1 (Q8TDI8)
D47E (p.Asp47Glu) in TMC1 (Q8TDI8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of TMC1-related disorder; Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
D47E (p.Asp47Glu) variant details
- p.Asp47Glu
- rs140388347
- 1000Genomes rs140388347
- ESP rs140388347
- ExAC rs140388347
- Conflicting interpretations
- TMC1-related disorder; Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 17.40
- PolyPhen-2 0.48
- SIFT 0.87
- ClinVar: Conflicting classifications of pathogenicity (TMC1-related disorder; Inborn genetic diseases; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)