M60I (p.Met60Ile) variant of TNNC1 (P63316)
M60I (p.Met60Ile) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
M60I (p.Met60Ile) variant details
- p.Met60Ile
- rs1471808574
- ClinGen CA353168219
- ClinVar RCV001315280
- ClinVar RCV001751605
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.94
- MetaLR 0.48
- MetaSVM 0.02
- PolyPhen-2 0.78
- SIFT 0.31
- EVE 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1Z; Hypertrophi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)