A93V (p.Ala93Val) variant of TTN (Titin)
A93V (p.Ala93Val) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
A93V (p.Ala93Val) variant details
- p.Ala93Val
- gnomAD rs1473207810
- Uncertain significance
- Missense
- AlphaMissense 0.34
- MetaLR 0.51
- MetaSVM 0.01
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available