F74C (p.Phe74Cys) variant of TNNC1 (P63316)
F74C (p.Phe74Cys) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
F74C (p.Phe74Cys) variant details
- p.Phe74Cys
- rs1318170964
- ClinGen CA353167549
- ClinVar RCV001313770
- ClinVar RCV002223299
- Uncertain significance
- Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.97
- MetaLR 0.76
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13; not p)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)