P95S (p.Pro95Ser) variant of ETV1 (ETS translocation variant 1)
P95S (p.Pro95Ser) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
P95S (p.Pro95Ser) variant details
- p.Pro95Ser
- TOPMed rs1787182209
- gnomAD rs1787182209
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.55
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available