H145P (p.His145Pro) variant of ETV5 (ETS translocation variant 5)
H145P (p.His145Pro) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
H145P (p.His145Pro) variant details
- p.His145Pro
- Ensembl rs1713893994
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.14
- CADD 22.20
- PolyPhen-2 0.11
- SIFT 0.19
- Most common in the South Asian population (allele frequency 0.00016)