A52V (p.Ala52Val) variant of ETV6 (Transcription factor ETV6)
A52V (p.Ala52Val) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- rs774396176
- ClinGen CA6454128
- ClinVar RCV003332770
- ClinVar RCV005554932
- Conflicting interpretations
- not provided; Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.07
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00017)
- 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)