A8V (p.Ala8Val) variant of TNNC1 (P63316)
A8V (p.Ala8Val) in TNNC1 (P63316) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- rs267607125
- ClinGen CA122397
- ClinVar RCV000013256
- ClinVar RCV000037762
- Conflicting interpretations
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 13; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.23
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.22
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Hypertrophic cardiomyopathy 13; Dilate)
- EBI: Pathogenic (in CMH13)
- UniProt: Pathogenic (in CMH13)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in… (PMID 18572189)
- Cited in: A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy. (PMID 19439414)