R160H (p.Arg160His) variant of TPM1 (Tropomyosin alpha-1 chain)
R160H (p.Arg160His) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Dilated cardiomyopathy 1Y; Hypertrophic cardiomyopathy 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R160H (p.Arg160His) variant details
- p.Arg160His
- rs199476311
- ClinGen CA018077
- ClinVar RCV000024595
- ClinVar RCV000036336
- Pathogenic/Likely pathogenic
- not provided; Dilated cardiomyopathy 1Y; Hypertrophic cardiomyopathy 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 0.50
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Dilated cardiomyopathy 1Y; Hypertrophic cardiomyop)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)