P19P (p.Pro19Pro) variant of ETV6 (Transcription factor ETV6)
P19P (p.Pro19Pro) in ETV6 (Transcription factor ETV6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P19P (p.Pro19Pro) variant details
- p.Pro19Pro
- rs147305258
- gnomAD 12-11752473-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 11.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00075)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)