D73H (p.Asp73His) variant of ETV1 (ETS translocation variant 1)
D73H (p.Asp73His) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D73H (p.Asp73His) variant details
- p.Asp73His
- gnomAD rs1412813233
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.43
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available