M47R (p.Met47Arg) variant of TNNC1 (P63316)
M47R (p.Met47Arg) 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 0.42 / 1. The record also includes published literature and structural context.
M47R (p.Met47Arg) variant details
- p.Met47Arg
- rs1553651744
- ClinGen CA353168723
- ClinVar RCV000577999
- ClinVar RCV000578078
- Uncertain significance
- Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.94
- MetaLR 0.40
- MetaSVM -0.10
- PolyPhen-2 0.93
- SIFT 0.07
- EVE 0.20
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)