G76A (p.Gly76Ala) variant of TTN (Titin)
G76A (p.Gly76Ala) 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.
G76A (p.Gly76Ala) variant details
- p.Gly76Ala
- rs138750421
- ClinGen CA2006387
- ClinVar RCV000325596
- ClinVar RCV000621535
- Benign
- Missense
- CADD 24.60
- PolyPhen-2 1.00
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)