R35K (p.Arg35Lys) variant of TPM1 (Tropomyosin alpha-1 chain)
R35K (p.Arg35Lys) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R35K (p.Arg35Lys) variant details
- p.Arg35Lys
- rs730881152
- ClinGen CA272020239
- ClinVar RCV000776457
- ClinVar RCV001856129
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.31
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)