A68T (p.Ala68Thr) variant of ETV4 (ETS translocation variant 4)
A68T (p.Ala68Thr) in ETV4 (ETS translocation variant 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
A68T (p.Ala68Thr) variant details
- p.Ala68Thr
- cosmic curated COSV60044
- ExAC rs781638164
- TOPMed rs781638164
- gnomAD rs781638164
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.24
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)