K6R (p.Lys6Arg) variant of TNNC1 (P63316)
K6R (p.Lys6Arg) 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; Cardiovascular phenot. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
K6R (p.Lys6Arg) variant details
- p.Lys6Arg
- rs2153230085
- ClinGen CA353170842
- ClinVar RCV001364666
- ClinVar RCV002413865
- Uncertain significance
- Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13; Cardiovascular phenot
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.10
- MetaLR 0.18
- MetaSVM -0.89
- PolyPhen-2 0.00
- SIFT 0.20
- MutPred 0.38
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1Z; Hypertrophic cardiomyopathy 13; Cardi)
- 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)