K71R (p.Lys71Arg) variant of ETV6 (Transcription factor ETV6)
K71R (p.Lys71Arg) in ETV6 (Transcription factor ETV6) 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.
K71R (p.Lys71Arg) variant details
- p.Lys71Arg
- TOPMed rs1316503906
- gnomAD rs1316503906
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.09
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available