M1V (p.Met1Val) variant of TNNI3 (Troponin I, cardiac muscle)
M1V (p.Met1Val) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs397516341
- ClinGen CA021351
- ClinVar RCV000036273
- ClinVar RCV001729362
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- MetaLR 0.80
- MetaSVM 0.39
- PolyPhen-2 0.02
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available