K17T (p.Lys17Thr) variant of TNNC1 (P63316)
K17T (p.Lys17Thr) 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 0.71 / 1. The record also includes published literature and structural context.
K17T (p.Lys17Thr) variant details
- p.Lys17Thr
- rs2153229989
- ClinGen CA353169889
- ClinVar RCV001362489
- Ensembl rs2153229989
- Uncertain significance
- Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- AlphaMissense 0.62
- MetaLR 0.86
- MetaSVM 0.92
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.27
- 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)