G53S (p.Gly53Ser) variant of TTN (Titin)
G53S (p.Gly53Ser) 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, population frequency data, and published literature.
G53S (p.Gly53Ser) variant details
- p.Gly53Ser
- rs150902810
- ClinGen CA2006404
- cosmic curated COSV59947
- ClinVar RCV000465013
- Uncertain significance
- Missense
- CADD 25.60
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)