E28V (p.Glu28Val) variant of SLC6A19 (Q695T7)
E28V (p.Glu28Val) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E28V (p.Glu28Val) variant details
- p.Glu28Val
- rs202191814
- ClinGen CA3182556
- ClinVar RCV003740126
- ClinVar RCV004374324
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- 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)