H104D (p.His104Asp) variant of ETV5 (ETS translocation variant 5)
H104D (p.His104Asp) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
H104D (p.His104Asp) variant details
- p.His104Asp
- gnomAD rs1713924186
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.23
- CADD 23.80
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)