P71S (p.Pro71Ser) variant of ETV4 (ETS translocation variant 4)
P71S (p.Pro71Ser) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
P71S (p.Pro71Ser) variant details
- p.Pro71Ser
- TOPMed rs1464611508
- gnomAD rs1464611508
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.27
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)