V70M (p.Val70Met) variant of TTN (Titin)
V70M (p.Val70Met) in TTN (Titin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
V70M (p.Val70Met) variant details
- p.Val70Met
- rs772248060
- ClinGen CA2006391
- NCI-TCGA Cosmic COSV6022
- cosmic curated COSV60229
- Likely benign
- Missense
- CADD 24.40
- PolyPhen-2 0.96
- EBI: Likely benign
- UniProt: Likely 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)