L56S (p.Leu56Ser) variant of ETV6 (Transcription factor ETV6)
L56S (p.Leu56Ser) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L56S (p.Leu56Ser) variant details
- p.Leu56Ser
- NCI-TCGA Cosmic COSV1011
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.28
- CADD 27.80
- PolyPhen-2 0.92
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available