A40V (p.Ala40Val) variant of ETV6 (Transcription factor ETV6)
A40V (p.Ala40Val) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Thrombocytopenia 5; not provided; Inborn genetic diseases. 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.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- rs576945965
- ClinGen CA6454119
- ClinVar RCV002938965
- ClinVar RCV003151428
- Benign/Likely benign
- Thrombocytopenia 5; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.08
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.30
- ClinVar: Benign/Likely benign (Thrombocytopenia 5; not provided; Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:PJL population (allele frequency 0.016)
- 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)