V66I (p.Val66Ile) variant of ETV6 (Transcription factor ETV6)
V66I (p.Val66Ile) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
V66I (p.Val66Ile) variant details
- p.Val66Ile
- rs139975161
- ClinGen CA6454181
- NCI-TCGA Cosmic COSV6715
- ClinVar RCV001822490
- Uncertain significance
- not specified; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.40
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Uncertain significance (not specified; Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- 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)