A76T (p.Ala76Thr) variant of ETV1 (ETS translocation variant 1)
A76T (p.Ala76Thr) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A76T (p.Ala76Thr) variant details
- p.Ala76Thr
- gnomAD rs1781563495
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.12
- CADD 21.00
- PolyPhen-2 0.05
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available