D49A (p.Asp49Ala) variant of ETV5 (ETS translocation variant 5)
D49A (p.Asp49Ala) in ETV5 (ETS translocation variant 5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
D49A (p.Asp49Ala) variant details
- p.Asp49Ala
- TOPMed rs1433707925
- gnomAD rs1433707925
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.66
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)