R35S (p.Arg35Ser) variant of TPM1 (Tropomyosin alpha-1 chain)
R35S (p.Arg35Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R35S (p.Arg35Ser) variant details
- p.Arg35Ser
- rs1448738061
- ClinGen CA392718154
- ClinVar RCV000852459
- ClinVar RCV001170564
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.49
- CADD 22.60
- PolyPhen-2 0.09
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)