A27V (p.Ala27Val) variant of TTN (Titin)
A27V (p.Ala27Val) 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.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- ExAC rs760167840
- TOPMed rs760167840
- gnomAD rs760167840
- Uncertain significance
- not provided
- Missense
- CADD 27.40
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available