E32K (p.Glu32Lys) variant of TNNC1 (P63316)
E32K (p.Glu32Lys) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- rs1553651750
- ClinGen CA353169283
- ClinVar RCV000647104
- ClinVar RCV003162940
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.45
- CADD 22.80
- PolyPhen-2 0.43
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 13; Dilate)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- 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)