S36G (p.Ser36Gly) variant of TPM1 (Tropomyosin alpha-1 chain)
S36G (p.Ser36Gly) 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 Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S36G (p.Ser36Gly) variant details
- p.Ser36Gly
- rs1566936237
- ClinGen CA392718157
- ClinVar RCV000769477
- ClinVar RCV001258191
- Uncertain significance
- Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.56
- CADD 23.90
- PolyPhen-2 0.04
- SIFT 0.22
- ClinVar: Uncertain significance (Cardiovascular phenotype; Cardiomyopathy; Hypertrophic cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)