D60Y (p.Asp60Tyr) variant of TTN (Titin)
D60Y (p.Asp60Tyr) 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.
D60Y (p.Asp60Tyr) variant details
- p.Asp60Tyr
- rs35683768
- ClinGen CA282808
- ClinVar RCV000039957
- ClinVar RCV000251100
- Benign
- Missense
- CADD 24.60
- PolyPhen-2 0.88
- EBI: Benign (in dbSNP:rs35683768)
- UniProt: Benign (in dbSNP:rs35683768)
- Population evidence available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)