L18R (p.Leu18Arg) variant of TTN (Titin)
L18R (p.Leu18Arg) in TTN (Titin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
L18R (p.Leu18Arg) variant details
- p.Leu18Arg
- ExAC rs748322000
- TOPMed rs748322000
- gnomAD rs748322000
- Uncertain significance
- not provided
- Missense
- CADD 29.30
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available