M70L (p.Met70Leu) variant of TNNT2 (Troponin T, cardiac muscle)
M70L (p.Met70Leu) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
M70L (p.Met70Leu) variant details
- p.Met70Leu
- rs141837529
- ClinGen CA004111
- ClinVar RCV000152108
- 1000Genomes rs141837529
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- AlphaMissense 0.08
- MetaLR 0.81
- MetaSVM 0.28
- PolyPhen-2 0.00
- SIFT 0.49
- EVE 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available