K110I (p.Lys110Ile) variant of ETV1 (ETS translocation variant 1)
K110I (p.Lys110Ile) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
K110I (p.Lys110Ile) variant details
- p.Lys110Ile
- Ensembl rs1787171846
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.23
- CADD 24.00
- PolyPhen-2 0.59
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available