D55N (p.Asp55Asn) variant of TPM1 (Tropomyosin alpha-1 chain)
D55N (p.Asp55Asn) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Dilated cardiomyopathy 1Y; Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
D55N (p.Asp55Asn) variant details
- p.Asp55Asn
- rs397516363
- ClinGen CA017879
- ClinVar RCV000036316
- ClinVar RCV005252709
- Conflicting interpretations
- Dilated cardiomyopathy 1Y; Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 22.50
- ClinVar: Conflicting classifications of pathogenicity (Dilated cardiomyopathy 1Y; Primary dilated cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)