V44M (p.Val44Met) variant of TNNC1 (P63316)
V44M (p.Val44Met) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
V44M (p.Val44Met) variant details
- p.Val44Met
- rs1706339531
- ClinGen CA353168840
- ClinVar RCV001328482
- ClinVar RCV002546259
- Uncertain significance
- Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- AlphaMissense 0.92
- MetaLR 0.63
- MetaSVM 0.28
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.35
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z)
- 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)