D2V (p.Asp2Val) variant of TNNC1 (P63316)
D2V (p.Asp2Val) 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 0.38 / 1. The record also includes published literature and structural context.
D2V (p.Asp2Val) variant details
- p.Asp2Val
- rs397516850
- ClinGen CA353170984
- ClinVar RCV002932127
- Uncertain significance
- Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- AlphaMissense 0.23
- MetaLR 0.22
- MetaSVM -0.75
- PolyPhen-2 0.01
- SIFT 0.14
- MutPred 0.40
- 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)