T93S (p.Thr93Ser) variant of ETV4 (ETS translocation variant 4)
T93S (p.Thr93Ser) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
T93S (p.Thr93Ser) variant details
- p.Thr93Ser
- rs114284282
- ClinGen CA8592396
- cosmic curated COSV60043
- ClinVar RCV000947827
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.09
- CADD 20.80
- PolyPhen-2 0.03
- SIFT 0.47
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)