V9I (p.Val9Ile) variant of TNNC1 (P63316)
V9I (p.Val9Ile) 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; Cardiovascular phenot. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
V9I (p.Val9Ile) variant details
- p.Val9Ile
- rs1578264552
- ClinGen CA353170074
- ClinVar RCV000853119
- ClinVar RCV002427090
- Uncertain significance
- Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z; Cardiovascular phenot
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- AlphaMissense 0.28
- MetaLR 0.66
- MetaSVM 0.20
- PolyPhen-2 0.05
- SIFT 0.28
- MutPred 0.36
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z; Cardi)
- 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)