P42S (p.Pro42Ser) variant of ETV4 (ETS translocation variant 4)
P42S (p.Pro42Ser) in ETV4 (ETS translocation variant 4) 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 0.29 / 1. The record also includes population frequency data.
P42S (p.Pro42Ser) variant details
- p.Pro42Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.10
- CADD 23.60
- PolyPhen-2 0.63
- SIFT 0.42
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)