P114S (p.Pro114Ser) variant of ETV4 (ETS translocation variant 4)
P114S (p.Pro114Ser) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
P114S (p.Pro114Ser) variant details
- p.Pro114Ser
- ExAC rs753960184
- TOPMed rs753960184
- gnomAD rs753960184
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.07
- CADD 22.40
- PolyPhen-2 0.11
- SIFT 0.34
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)