L29Q (p.Leu29Gln) variant of TNNC1 (P63316)
L29Q (p.Leu29Gln) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L29Q (p.Leu29Gln) variant details
- p.Leu29Gln
- rs267607123
- ClinGen CA122395
- ClinVar RCV000013255
- ClinVar RCV000215162
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.15
- MetaLR 0.59
- MetaSVM -0.05
- PolyPhen-2 0.00
- SIFT 0.22
- EVE 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 13; Dilate)
- EBI: Pathogenic (in CMH13)
- UniProt: Pathogenic (in CMH13)
- Population evidence available
- Structural context available
- Cited in: First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. (PMID 11385718)
- Cited in: Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A… (PMID 16302972)