P143L (p.Pro143Leu) variant of ETV5 (ETS translocation variant 5)
P143L (p.Pro143Leu) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
P143L (p.Pro143Leu) variant details
- p.Pro143Leu
- Ensembl rs1713894124
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.30
- CADD 25.50
- PolyPhen-2 0.71
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)