M70V (p.Met70Val) variant of TNNT2 (Troponin T, cardiac muscle)
M70V (p.Met70Val) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and published literature.
M70V (p.Met70Val) variant details
- p.Met70Val
- rs141837529
- ClinGen CA004115
- ClinVar RCV000036559
- ClinVar RCV000766663
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- AlphaMissense 0.08
- MetaLR 0.81
- MetaSVM 0.28
- CADD 5.07
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)