V9G (p.Val9Gly) variant of TNNC1 (P63316)
V9G (p.Val9Gly) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
V9G (p.Val9Gly) variant details
- p.Val9Gly
- rs730881056
- ClinGen CA297307
- ClinVar RCV000159192
- ClinVar RCV000468842
- Uncertain significance
- Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- AlphaMissense 0.39
- MetaLR 0.69
- MetaSVM 0.48
- PolyPhen-2 0.56
- SIFT 0.00
- MutPred 0.50
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13; not p)
- 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)