A89G (p.Ala89Gly) variant of TTN (Titin)
A89G (p.Ala89Gly) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes variant effect predictions, population frequency data, and published literature.
A89G (p.Ala89Gly) variant details
- p.Ala89Gly
- rs200165636
- ClinGen CA302585
- ClinVar RCV000172495
- ClinVar RCV000524658
- Benign
- Missense
- CADD 25.60
- PolyPhen-2 0.99
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)