T9M (p.Thr9Met) variant of TTN (Titin)
T9M (p.Thr9Met) 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.
T9M (p.Thr9Met) variant details
- p.Thr9Met
- rs146123323
- ClinGen CA311439
- cosmic curated COSV60177
- ClinVar RCV000185182
- Uncertain significance
- Missense
- CADD 17.40
- PolyPhen-2 0.23
- 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)