P20S (p.Pro20Ser) variant of ETV6 (Transcription factor ETV6)
P20S (p.Pro20Ser) 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 0.37 / 1. The record also includes population frequency data and structural context.
P20S (p.Pro20Ser) variant details
- p.Pro20Ser
- NCI-TCGA Cosmic COSV6714
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.13
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.97
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available