M47I (p.Met47Ile) variant of TNNC1 (P63316)
M47I (p.Met47Ile) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
M47I (p.Met47Ile) variant details
- p.Met47Ile
- rs886039440
- ClinGen CA353168720
- ClinVar RCV003802698
- ClinGen CA10588371
- Uncertain significance
- Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- AlphaMissense 0.92
- MetaLR 0.48
- MetaSVM -0.09
- PolyPhen-2 0.52
- SIFT 0.15
- EVE 0.23
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)