V16M (p.Val16Met) variant of TTN (Titin)
V16M (p.Val16Met) 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.
V16M (p.Val16Met) variant details
- p.Val16Met
- rs756212082
- ClinGen CA2006444
- cosmic curated COSV10741
- ClinVar RCV001799206
- Uncertain significance
- Missense
- CADD 25.30
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)