S69R (p.Ser69Arg) variant of TNNC1 (P63316)
S69R (p.Ser69Arg) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S69R (p.Ser69Arg) variant details
- p.Ser69Arg
- rs202173903
- ClinGen CA16611461
- ClinVar RCV000470675
- 1000Genomes rs202173903
- Uncertain significance
- Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- AlphaMissense 0.99
- MetaLR 0.61
- MetaSVM 0.27
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.49
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13)
- EBI: Benign
- UniProt: Benign
- 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)