S9R (p.Ser9Arg) variant of ETV6 (Transcription factor ETV6)
S9R (p.Ser9Arg) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Neoplasm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S9R (p.Ser9Arg) variant details
- p.Ser9Arg
- ESP rs372541278
- ExAC rs372541278
- gnomAD rs372541278
- Uncertain significance
- Neoplasm
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.09
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Neoplasm)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available