A89V (p.Ala89Val) variant of TTN (Titin)
A89V (p.Ala89Val) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes variant effect predictions and population frequency data.
A89V (p.Ala89Val) variant details
- p.Ala89Val
- cosmic curated COSV60314
- ESP rs200165636
- ExAC rs200165636
- TOPMed rs200165636
- Benign
- Missense
- CADD 25.60
- PolyPhen-2 0.99
- EBI: Benign
- UniProt: Benign
- Population evidence available