P23H (p.Pro23His) variant of ETV4 (ETS translocation variant 4)
P23H (p.Pro23His) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
P23H (p.Pro23His) variant details
- p.Pro23His
- gnomAD rs1314951346
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.10
- CADD 24.90
- PolyPhen-2 0.58
- SIFT 0.24
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)