K49I (p.Lys49Ile) variant of SETX (Helicase senataxin)
K49I (p.Lys49Ile) in SETX (Helicase senataxin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
K49I (p.Lys49Ile) variant details
- p.Lys49Ile
- ESP rs142551293
- ExAC rs142551293
- TOPMed rs142551293
- gnomAD rs142551293
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available