Y5C (p.Tyr5Cys) variant of TNNC1 (P63316)
Y5C (p.Tyr5Cys) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
Y5C (p.Tyr5Cys) variant details
- p.Tyr5Cys
- rs1706370933
- ClinGen CA353170873
- ClinVar RCV001891689
- ClinVar RCV006555105
- Conflicting interpretations
- Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- AlphaMissense 0.49
- MetaLR 0.22
- MetaSVM -0.62
- PolyPhen-2 0.99
- SIFT 0.07
- MutPred 0.33
- ClinVar: Conflicting classifications of pathogenicity (Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy 1Z)
- EBI: Likely benign
- UniProt: Likely benign
- 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)