A6D (p.Ala6Asp) variant of ETV6 (Transcription factor ETV6)
A6D (p.Ala6Asp) in ETV6 (Transcription factor ETV6) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A6D (p.Ala6Asp) variant details
- p.Ala6Asp
- rs1863862591
- ClinGen CA384041922
- ClinVar RCV003848731
- ClinVar RCV005555059
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.05
- CADD 22.60
- PolyPhen-2 0.10
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)